ivms genetics flash facts

Q0001:What does it mean for genetic code to be commaless?

Genetics Flash Facts

1

Read from a fixed starting point as a continuous sequence of

bases


2

Q0002:What does it mean for genetic code to be non-

overlapping?


3

Read from a fixed starting point


4

Q0003:What does it mean for genetic code to be universal?


5

Genetic code is conserved throughout evolution


6

Q0004:What are the properties of the genetic code?


7

1. Unambiguous;2. Degenerate/redundant;3.

Commaless/nonoverlapping;4. Universal


8

Q0005:When is genetic code not commaless/nonoverlapping?


9

In some viruses


10

Q0006:What are exceptions to universality of genetic code?


11

1. Mitochondria;2. Archaebacteria;3. Mycoplasma;4. Some

yeasts


12

Q0007:Name that mutation: Same amino acid; often with a

base change in 3rd position of codon


13

Silent mutation


14

Q0008:What kind of mutation is called: silent


15

Same amino acid; often with a base change in 3rd position of

codon


16

Q0009:What mutation is masked by tRNA wobble?


17

Silent mutations


18

Q0010:Name that mutation: Changed amino acid whose

structure is dissimilar to proper amino acid


19

Missense mutation (not conservative)


20

Q0011:Name that mutation: Changed amino acid whose

structure is similar to proper amino acid


21

Conservative missense mutation


22

Q0012:What kind of mutation is called: missense


23

Amino acid is changed. If the structure of the new amino acid

is similar to the original; it is called conservative.


24

Q0013:Name that mutation: Change resulting in early stop

codon


25

Nonsense mutation;(Mnemonic: Stop the nonsense!)


26

Q0014:What kind of mutation is called: nonsense


27

Change resulting in early stop codon;(Mnemonic: Stop the

nonsense!)


28

Q0015:Name that mutation: change resulting in misreading of

all nucleotides downstream; usually resulting in a truncated

protein


29

Frame shift mutation


30

Q0016:What kind of mutation is called: frameshift


31

change resulting in misreading of all nucleotides downstream;

usually resulting in a truncated protein


32

Q0017:Mutations ordered by decreasing severity of damage


33

1. Nonsense;2. Missense;3. Silent


34

Q0018:Eukaryotic genome: single/multiple origins of

replication


35

multiple


36

Q0019:Prokaryotic genome: single/multiple origins of

replication


37

single


38

Q0020:Eukaryotic genome: Trigger for replication


39

Consensus sequence of AT-rich base pairs


40

Q0021:Prokaryotic genome: Describe DNA replication


41

Continuous bidirectional DNA synthesis on leading strand

and discontinuous (Okazaki fragments) on lagging strand


42

Q0022:Enzyme function: DNA topoisomerases


43

Create a nick in the helix to relieve supercoils


44

Q0023:DNA Topoisomerase I: Mechanism


45

cuts one strand; passes the other through it then reanneals the

cut strand


46

Q0024:DNA Topoisomerase II: Mechanism


47

cuts both strands; and passes an unbroken double strand

through it then reanneals the cut strand


48

Q0025:Enzyme function: Primase


49

Makes an RNA primer on which DNA polymerase III can

initiate replication


50

Q0026:DNA polymerase III: Mechanism


51

1. Adds deoxynucleotides to the 3' end until it reaches primer

of preceding fragment;2. 3' to 5' exonuclease activity

"proofreads" each added nucleotide


52

Q0027:DNA polymerase III: Which direction does it read?


53

3' to 5'


54

Q0028:DNA polymerase III: Which direction does it write?


55

5' to 3'


56

Q0029:DNA polymerase III: Which direction does it

proofread?


57

3' to 5'


58

Q0030:Enzyme function: DNA polymerase III


59

Elongates the chain


60

Q0031:Enzyme function: DNA polymerase I


61

Degrades RNA primer and fills in the gap with DNA


62

Q0032:DNA polymerase I: Which direction does it read?


63

3' to 5'


64

Q0033:DNA polymerase I: Which direction does it write?


65

5' to 3'


66

Q0034:DNA polymerase I: Which direction does it

proofread?


67

5' to 3'


68

Q0035:Enzyme function: DNA helicase


69

Separates the two strands of DNA into single strands

allowing for replication to occur. The position of these

separated strands is called the replication fork.


70

Q0036:Types of DNA repair


71

Single stranded;1. Nucleotide excision repair;2. Base excision

repair;3. Mismatch repair;Double stranded;1. Nonhomologous

end joining


72

Q0037:Nucleotide excision repair: Mechanism


73

1. Specific endonucleases release the oligonucleotide

containing damaged bases;2. DNA polymerase and ligase fill

and reseal the gap; respectively


74

Q0038:In what condition is nucleotide excision repair

mutated?


75

Xeroderma pigmentosa (dry skin with melanoma and other

cancers)


76

Q0039:Base excision repair: Mechanism


77

1. Specific glycosylases recognize and remove damaged

bases;2. AP endonuclease cuts DNA at apyrimidinic site;3.

Empty sugar is removed;4. Gap is refilled and resealed


78

Q0040:Mismatch repair: Mechanism


79

1. Unmethylated; newly synthesized string is recognized;2.

Mismatched nucleotides are removed;3. Gap is refilled and

resealed


80

Q0041:In what condition is mismatch excision repair

mutated?


81

Hereditary Nonpolyposis Colon Cancer


82

Q0042:Nonhomologous end joining: Mechanism


83

Brings together two ends of DNA fragments (no requirement

for homology)


84

Q0043:What is on the 5' end of a nucleotide


85

Triphosphate


86

Q0044:What is on the 3' end of a nucleotide


87

Hydroxyl group


88

Q0045:True/False: DNA is synthesized 5' to 3'


89

True


90

Q0046:True/False: DNA is synthesized 3' to 5'


91

False


92

Q0047:True/False: RNA is synthesized 5' to 3'


93

True


94

Q0048:True/False: RNA is synthesized 3' to 5'


95

False


96

Q0049:True/False: Protein synthesis proceeds 5' to 3'


97

True


98

Q0050:True/False: Protein synthesis proceeds 3' to 5'


99

False


100

Q0051:Types of RNA and their important qualities


101

Massive; Rampant; Tiny;mRNA is the largest type;rRNA is

the most abundant type;tRNA is the smallest type


102

Q0052:What does eukaryotic RNA polymerase I make?


103

rRNA


104

Q0053:What does eukaryotic RNA polymerase II make?


105

mRNA


106

Q0054:What does eukaryotic RNA polymerase III make?


107

tRNA


108

Q0055:Which RNA polymerase makes rRNA?


109

eukaryotic RNA polymerase I and prokaryotic RNA

polymerase


110

Q0056:Which RNA polymerase makes mRNA?


111

eukaryotic RNA polymerase II and prokaryotic RNA

polymerase


112

Q0057:Which RNA polymerase makes tRNA?


113

eukaryotic RNA polymerase III and prokaryotic RNA

polymerase


114

Q0058:True/False: RNA polymerase proofreads.


115

False


116

Q0059:True/False: RNA polymerase does not proofread.


117

True


118

Q0060:Special points about RNA polymerase II


119

1. Opens DNA at promoter site;2. Inhibited by alpha-

amanitin


120

Q0061:What does alpha-amanitin do?


121

Inhibits RNA polymerase II leading to hepatic necrosis


122

Q0062:mRNA initiation codons


123

1. AUG (inAUGurates protein synthesis);2. GUG (rarely)


124

Q0063:What does the mRNA initiation codon code for?


125

Methionine in eukaryotes. formyl-methionine in prokaryotes.


126

Q0064:mRNA stop codons


127

1. UGA (U Go Away);2. UAA (U Are Away);3. UAG (U

Are Gone)


128

Q0065:Define promoter of gene expression.


129

Site where RNA polymerase and multiple other transcription

factors bind to DNA upstream from gene locus


130

Q0066:What characterizes a promoter of gene expression?


131

AT-rich upstream sequence with TATA and CAAT boxes


132

Q0067:What is the result of promoter mutation?


133

Dramatic decrease in amount of gene transcribed


134

Q0068:Define enhancer of gene expression.


135

Stretch of DNA that alters gene expression by binding

transcription factors. May be located close to; far from; or

even within the gene whose expression it regulates.


136

Q0069:Define operator of gene expression


137

Site where repressors bind


138

Q0070:What is alternative splicing?


139

Rearrangement of exons to make unique proteins


140

Q0071:What is the sequence of mRNA splicing?


141

1. Primary transcript combines with snRNP ("snerp") to form

spliceosome;2. Lariat-shaped intermediate is generated;3.

Lariat is released to remove intron precisely and join two

exons


142

Q0072:Where and when does eukaryotic RNA processing

happen?


143

In the nucleus after transcription


144

Q0073:What is the initial RNA transcript called?


145

heterogeneous nuclear RNA (hnRNA)


146

Q0074:What are the steps in processing hnRNA to make

mRNA? (Note: This is more than splicing.)


147

1. Capping on 5' end with 7-methyl-G;2. Polyadenylation on

3' end (approximately 200 As);3. Splicing out of introns


148

Q0075:How many nucleotides does tRNA contain?


149

75 to 90 nucleotides


150

Q0076:What sequence does every tRNA share at the 3' end?


151

CCA along with a high percentage of chemically modified

bases


152

Q0077:Amino acid binding to tRNA: Where (on the tRNA)

and how?


153

Where: 3' end;How: Covalently


154

Q0078:What is the enzyme involved in processing tRNA


155

Aminoacyl tRNA synthetase (uses 1 ATP)


156

Q0079:Aminoacyl tRNA synthetase: Mechanism


157

1. Scrutinizes amino acid before it binds to tRNA;2. Binds

AMP-amino group to 3' end of tRNA;3. Scrutinizes amino

acid again. If incorrect; bond is hydrolyzed.


158

Q0080:What is wrong with a mischarged tRNA


159

Reads the regular bond but inserts wrong amino acid.


160

Q0081:Which position on the codon is the wobble position?


161

3rd position


162

Q0082:Names of the steps in protein synthesis


163

1. Initiation;2. Elongation;3. Termination


164

Q0083:Sequence of events in the initiation step of protein

synthesis.


165

1. Initiation factors assemble the 40S ribosomal subunit with

the initiator tRNA;2. mRNA and (60S?) ribosomal subunit

combine with the 40S subunit;3. Initiation factors are released.


166

Q0084:Sequence of events in the elongation step of protein

synthesis.


167

1. Aminoacyl tRNA binds to the A site;2. Peptidyltransferase

catalyzes peptide bond formation;3. Peptidyltransferase

transfers growing polypeptide to amino acid in A site;4.

Ribosome advances three nucleotides toward 3' end of RNA

moving peptidyl RNA to P site.


168

Q0085:Sequence of events in the termination step of protein

synthesis.


169

1. Completed protein is released from ribosome;2. Ribosome

dissociates.


170

Q0086:Role of ATP in protein synthesis


171

ATP does tRNA Activation (charging)


172

Q0087:Role of GTP in protein synthesis


173

GTP does tRNA Going places (aka translocation) and

Gripping


174

Q0088:Role of A site in protein synthesis


175

A site holds incoming Aminoacyl tRNA.


176

Q0089:Role of P site in protein synthesis


177

P site accomodates growing Peptide.


178

Q0090:Role of E site in protein synthesis


179

E site holds Empty tRNA as it Exits


180

Q0091:Which post-translational modification involves

removal of N or C terminal pro-peptides from zymogens to

generate mature proteins?


181

Trimming


182

Q0092:What happens in post-translational trimming?


183

removal of N or C terminal pro-peptides from zymogens to

generate mature proteins


184


phosphorylation?


185

post-translational covalent alteration


186

Q0094:What happens during post-translational covalent

alterations?


187

Either;1. Phosphorylation;2. Glycosylation;3. Hydroxylation


188


glycosylation?


189



190


hydroxylation?


191



192

Q0097:What happens during proteasomal degradation?


193

Attachment of ubiquitin to defective proteins to tag them for

breakdown.


194

Q0098:Ubiquitin or Ubiquinone: Proteosomal degradation


195

Ubiquitin


196

Q0099:Ubiquitin or Ubiquinone: Coenzyme Q in oxidative

phosphorylation


197

Ubiquinone


198

Q0100:Where in the cell does the following occur: Fatty acid

oxidation (beta-oxidation)


199

Mitochondria


200

Q0101:Where in the cell does the following occur: acetyl-CoA

production


201

Mitochondria


202

Q0102:Where in the cell does the following occur: Krebs cycle


203

Mitochondria


204

Q0103:Where in the cell does the following occur: Glycolysis


205

Cytoplasm


206

Q0104:Where in the cell does the following occur: Fatty acid

synthesis


207

Cytoplasm


208

Q0105:Where in the cell does the following occur: Hexose

Monophosphate Shunt


209

Cytoplasm


210

Q0106:Where in the cell does the following occur: Protein

Synthesis


211

Rough endoplasmic reticulum in the cytoplasm


212

Q0107:Where in the cell does the following occur: Steroid

synthesis


213

Smooth endoplasmic reticulum in the cytoplasm


214

Q0108:Where in the cell does the following occur:

Gluconeogenesis


215

Pathway has steps in the mitochondria and in the cytoplasm


216

Q0109:Where in the cell does the following occur: Urea cycle


217



218

Q0110:Where in the cell does the following occur: Heme

synthesis


219



220

Q0111:What type of bonds hold the phosphoryls together in

ATP; and how much energy are the bonds worth?


221

Phosphoanhydride bonds are worth 7 kilocalories per mole

(but only between the alpha and beta and the beta and the

gamma; thus AMP's phosphoryl is not cleaved off for energy)


222

Q0112:How many ATP molecules are produced by aerobic

metabolism of glucose?


223

38 via the Malate shuttle; and 36 via the G3P shuttle.


224

Q0113:In aerobic metabolism of glucose; which pathway

produces 38 ATP?


225

Malate shuttle


226

Q0114:In aerobic metabolism of glucose; which pathway

produces 36 ATP?


227

G3P shuttle


228

Q0115:How much ATP is produced by anaerobic glycolysis?


229

2 ATP per glucose


230

Q0116:What is this molecule an activated carrier of?: ATP


231

Phosphoryls


232

Q0117:What is this molecule an activated carrier of?: NADH


233

Electrons


234

Q0118:What is this molecule an activated carrier of?: NADPH


235

Electrons


236

Q0119:What is this molecule an activated carrier of?: FADH2


237

Electrons


238

Q0120:What is this molecule an activated carrier of?:

Coenzyme A


239

Acyl


240


Lipoamide


241

Acyl


242

Q0122:What is this molecule an activated carrier of?: Biotin


243

CO2


244


Tetrahydrofolate


245

1-carbon units


246

Q0124:What is this molecule an activated carrier of?: S-

adenosyl-methionine


247

Methyl groups


248


Thiamine Pyrophosphate


249

Aldehydes


250

Q0126:What activated carriers carry: Phosphoryl


251

ATP and GTP


252

Q0127:What activated carriers carry: Electrons


253

1. NADH;2. NADPH;3. FADH2


254

Q0128:What activated carriers carry: Acyl


255

1. Coenzyme A;2. Lipoamide


256

Q0129:What activated carriers carry: CO2


257

Biotin


258

Q0130:What activated carriers carry: 1-carbon units


259

1. Tetrahydrofolates (originally as formyl then methyl);2.

Biotin (as CO2);3. S-adenosyl-methionine (as CH3)


260

Q0131:What activated carriers carry: CH3 groups


261

1. S-adenosyl-methionine;2. N5-methyl-THF


262

Q0132:What activated carriers carry: Formyl groups


263

N10-formyl-THF


264

Q0133:What activated carriers carry: Aldehydes


265

Thiamine Pyrophosphate


266

Q0134:ATP and methionine react to form what?


267

S-adenosyl-methionine


268

Q0135:What reacts to yield S-adenosyl-methionine?


269

ATP and methionine


270

Q0136:What vitamin is necessary for regeneration of S-

adenosyl-methionine?


271

Vitamin B12


272

Q0137:When is NAD used?


273

Catabolic processes to carry reducing equivalents away as

NADH


274

Q0138:When is NADPH used?


275

1. Anabolic process (steroid and fatty acid synthesis);2.

Respiratory burst;3. P-450


276

Q0139:Where does NADPH come from?


277

HMP shunt


278

Q0140:What disease results from NADPH oxidase

deficiency?


279

Chronic Granulomatous Disease


280

Q0141:This enzyme phosphorylates glucose with high

affinity.


281

Hexokinase (as opposed to glucokinase)


282

Q0142:This enzyme phosphorylates glucose with low

affinity.


283

Glucokinase (as opposed to hexokinase)


284

Q0143:This enzyme phosphorylates glucose with a low

capacity.


285



286

Q0144:This enzyme phosphorylates glucose and is feedback

inhibited by Glucose-6-Phosphate.


287



288

Q0145:This enzyme phosphorylates glucose with a high

capacity.


289



290

Q0146:This enzyme phosphorylates glucose and is not

feedback inhibited.


291



292

Q0147:Glucokinase: Where is it found and why does it do

what it does?


293

Found in the liver and pancreatic beta cells. Phosphorylates

glucose to sequester it after a big meal.


294

Q0148:Hexokinase: Where is it found and why does it do

what it does?


295

Found in every cell's cytoplasm. Phosphorylates glucose to

proceed with glycolysis.


296

Q0149:What are the net reactants and products in glycolysis.


297

Reactants;1. Glucose;2. 2 Phosphates;3. 2 ADP;4. 2

NAD;Products;1. 2 Pyruvate;2. 2 ATP;3. 2 NADH;4. 2

H+;5. 2 H20


298

Q0150:What are the rate limiting steps of glycolysis?


299

1. Hexokinase (Glucose to Glucose-6-P);2.

*Phosphofructokinase-1 (Fructose-6-P to Fructose-1;6-

BP);3. Pyruvate kinase (Phosphoenolpyruvate to Pyruvate)


300

Q0151:Phosphofructokinase-1: What does it do; and what

stimulates and inhibits it?


301

PFK-1 1-phosphorylates fructose-6-phosphate to produce

Fructose-1;6-Bisphosphate;Inhibited by;1. ATP (don't need

more of me);2. Citrate (my cycle is going well);Stimulated

by;1. AMP (Hey; we need more ATP);2. Fructose-2;6-BP

(The fact that I'm being made means there's tons of glucose.)


302

Q0152:Pyruvate kinase: What does it do; and what stimulates

and inhibits it?


303

Pyruvate kinase converts phosphoenolpyruvate to pyruvate;

thereby producing two ATP;Inhibited by;1. ATP (don't need

more of me);2. Alanine (I came from pyruvate; so we don't

need any more.);Stimulated by;1. Fructose-1;6-BP (I was told

we needed more ATP; so here I am; so you better move the

line along.)


304

Q0153:Pyruvate dehydrogenase: What does it do; and what

stimulates and inhibits it?


305

Pyruvate dehydrogenase converts pyruvate to acetyl-coA;

and produces NADH and CO2;Stimulated by: excess

pyruvate?;Inhibited by;1. NADH (Listen; seriously; we don't

need anymore of me.);2. NADH (You produce NADH; soon

there'll be more of me.);3. Acetyl-CoA (Enough of me; save

your pyrvuate.)


306

Q0154:What disease state is glycolytic enzyme deficiency

generally associated with?


307

Hemolytic anemia


308

Q0155:What is the mechanism of hemolytic anemia in

someone with glycolytic enzyme deficiency?


309

1. Lack of glycolysis leads to lack of ATP in RBCs;2. Lack of

ATP leads to inactivity of Na; K-ATPase pump;3. Lack of

the pump leads to sodium influx;4. Water follows sodium into

the cell;5. The cell swells and bursts.


310

Q0156:What are the two most common glycolytic enzyme

deficiencies?


311

Pyruvate kinase (95% of cases) followed by glucose

phosphate isomerase (4% of cases)


312

Q0157:What are the 5 cofactors necessary for pyrvuate

dehydrogenase?


313

Lipoic acid plus the first four B vitamins in their active

forms;1. B1: TPP;2. B2: FAD;3. B3: NAD;4. B5: CoA


314

Q0158:What are the 5 cofactors necessary for alpha-

ketoglutarate dehydrogenase?


315

Lipoic acid plus the first four B vitamins in their active

forms;1. B1: TPP;2. B2: FAD;3. B3: NAD;4. B5: CoA


316

Q0159:What are the net reactants and products in the reaction

that Pyruvate Dehydrogenase catalyzes?


317

Reactants;1. Pyruvate;2. CoA;3. NAD;Products;1. Acetyl

CoA;2. CO2;3. NADH


318

Q0160:What activates and what inhibits pyruvate

dehydrogenase?


319

Activated by exercise; which stimulates;1. Increased

NAD/NADH ratio (We need more NADH.);2. Increased

ADP (We need more ATP.);3. Ca2+ (More of me leads

muscles to contract; and I'm taken up by mitochondria where

I tell PDH that we need more ATP.);Inhibited by;1. NADH

(No more of me please);2. ATP (likewise);3. Acetyl CoA

(ditto)


320

Q0161:Lipoamide or lipoate: Which carries aldehydes?


321

Lipoamide


322

Q0162:Lipoamide or lipoate: Which is a cofactor for pyruvate

dehydrogenase?


323

Lipoate (Lipoic acid)


324

Q0163:What toxin inhibits lipoic acid?


325

Arsenic


326

Q0164:What is the presentation of arsenic toxicity?


327

1. Vomiting;2. Rice water stools;3. Garlic breath


328

Q0165:Pyruvate dehydrogenase deficiency: Mechanism


329

Backup of pyruvate and alanine leads to lactic acidosis.


330

Q0166:Pyruvate dehydrogenase deficiency: Congenital or

Acquired


331

Both. Acquired cases happen in cases of B1 deficiency (such

as in alcoholics.)


332

Q0167:Pyruvate dehydrogenase deficiency: Presentation


333

Lactic acidosis and neurologic defects


334

Q0168:Pyruvate dehydrogenase deficiency: Treatment


335

Increased intake of ketogenic nutrients (such as high fat

content or increased lysine and leucine)


336

Q0169:What are the miscellaneous fates of pyruvate; and

what are the end products used for?


337

1. Alanine: Carries amino groups to the liver from muscle;2.

Oxaloacetate: Replenishes TCA cycle or is used

gluconeogenesis;3. Acetyl-CoA: Used in TCA cycle;4.

Lactate: No good use


338

Q0170:Which tissues and organs primarily convert pyruvate

into lactate?


339

1. RBCs and WBCs;2. Lens and cornea;3. Renal medulla;4.

Testes


340

Q0171:What enzymes and cofactors are used in conversion of

pyruvate to alanine?


341

Enzyme: Alanine Transaminase (ALT);Cofactors: None


342

Q0172:What enzymes and cofactors are used in conversion of

pyruvate to oxaloacetate?


343

Enzyme: Pyruvate Carboxylase (contains biotin and

magnesium);Cofactors: CO2 and ATP


344

Q0173:What are the reactants and products in the reaction

catalyzed by pyruvate carboxylase?


345

Reactant;Pyruvate (with CO2 and

ATP);Product;Oxaloacetate


346

Q0174:What are the reactants and products in the reaction

catalyzed by lactate dehydrogenase?


347

This reaction is reversible; so the products can switch with

the reactants;Reactants;1. Pyruvate;2. NADH

(rehydrogenates in this direction);3. H+;Products;1. Lactate;2.

NAD


348

Q0175:Where do the various pyruvate transformation

reactions happen?


349

Cytosol;1. ALT (Alanine to/from pyruvate);2. LDH (Lactate

to/from pyruvate);Mitochondria;1. Pyruvate carboxylase

(pyruvate to oxaloacetate);2. Pyruvate dehydrogenase

(pyruvate to acetyl-coa)


350

Q0176:Where does the Cori Cycle happen?


351

In the liver and muscle/RBCs;Liver: Pyruvate converts to

glucose;Muscle/RBCs: Glucose converts to Pyruvate


352

Q0177:What is the purpose of the Cori cycle?


353

Transfers excess reducing equivalents from RBCs and the

muscle to liver so they can function anaerobically


354

Q0178:What reaction does citrate synthase catalyze?


355

Oxaloacetate and acetyl coA combine to yield citrate.


356

Q0179:What is the order of the citric acid cycle beginning at

citrate?


357

CAn I Keep Selling Sex For Money; Officer?;1. Citrate;2. cis-

Aconitate;3. Isocitrate;4. alpha-Ketoglutarate;5. Succinyl

CoA;6. Succinate;7. Fumarate;8. Malate;9. Oxaloacetate


358


cis-aconitate?


359

1. cis-Aconitate;2. Isocitrate;3. alpha-ketoglutarate;4. succinyl

coA;5. succinate;6. fumarate;7. money;8. oxaloacetate;9.

citrate


360


isocitrate?


361

1. isocitrate;2. alpha-ketoglutarate;3. succinyl coa;4.

succinate;5. fumarate;6. malate;7. oxaloacetate;8. citrate;9. cis-

aconitate


362


alpha-ketoglutarate?


363

1. alpha-ketoglutarate;2. succinyl coA;3. succinate;4.

fumarate;5. malate;6. oxaloacetate;7. citrate;8. cis-aconitate;9.

isocitrate


364


succinyl coA?


365

1. succinyl coA;2. succinate;3. fumarate;4. malate;5.

oxaloacetate;6. citrate;7. cis-aconitate;8. isocitrate;9. alpha-

ketoglutarate


366


succinate?


367

Sex Feels Marvelous Over Cordelia And If Kruti Sucks-a-

Neil;1. Succinate;2. Fumarate;3. Malate;4. Oxaloacetate;5.

Citrate;6. cis-aconitate;7. Isocitrate;8. alpha-ketoglutarate;9.

succinyl coA


368


fumarate?


369

1. fumarate;2. malate;3. oxaloacetate;4. citrate;5. cis-

aconitate;6. isocitrate;7. alpha-ketoglutarate;8. succinyl coA;9.

succinate


370


malate?


371

1. malate;2. oxaloacetate;3. citrate;4. cis-aconitate;5.

isocitrate;6. alpha-ketoglutarate;7. succinyl coA;8.

succinate;9. fumarate


372


oxaloacetate?


373

1. oxaloacetate;2. citrate;3. cis-aconitate;4. isocitrate;5. alpha-

ketoglutarate;6. succinyl coA;7. succinate;8. fumarate;9.

malate


374

Q0188:What stimulates and inhibits citrate synthase?


375

Stimulate: Nothing;Inhibit: ATP


376

Q0189:What stimulates and inhibits isocitrate dehydrogenase?


377

Stimulate: ADP;Inhibit;1. ATP;2. NADH


378

Q0190:What stimulates and inhibits alpha-ketoglutarate

dehydrogenase?


379

Stimulate: Nothing;Inhibit;1. ATP;2. NADH;3. Succinyl CoA


380

Q0191:Which steps in the citric acid cycle produce CO2?


381

The steps where carbons are lost; the two structures after

isocitrate each have one less carbon than the last;1. Isocitrate

to alpha-ketoglutarate;2. alpha-ketoglutarate to succinyl coA


382

Q0192:Which steps in the citric acid cycle produce reducing

equivalents?


383

The only step that produces FADH2 is the only one that also

yields an F product;1. Isocitrate to alpha ketoglutarate (1

NADH);2. alpha-ketoglutarate to succinyl coA (1 NADH);3.

Succinate to Fumarate (1 FADH2);4. Malate to Oxaloacetate

(1 NADH)


384

Q0193:Which steps in the citric acid cycle produce ATP?


385

None; however 1 GTP is produced from the conversion of

Succinyl CoA to Succinate.


386

Q0194:How much ATP is produced by the citric acid cycle

per molecule of acetyl coA?


387

12 ATP;3 NADH x 3 ATP/NADH= 9 ATP;1 FADH2 x 2

ATP/FADH2 = 2 ATP;1 GTP x 1 ATP/GTP = 1 ATP;The

total is 12 ATP


388

Q0195:How much ATP is produced by the citric acid cycle

per molecule of glucose?


389

24;1 cycle;3 ATP/NADH= 9 ATP;1 FADH2 x 2

ATP/FADH2 = 2 ATP;1 GTP x 1 ATP/GTP = 1 ATP;The

total is 12 ATP per acetyl coA. However; there are 2 acetyl

coA molecules produced per glucose molecule. Thus the total

is 24.


390

Q0196:Name the complexes and important coenzymes and

cytochromes in the electron transport chain.


391

1. Complex I;2. Coenzyme Q;3. Complex III;4. Cytochrome

C;5. Complex IV;6. Complex V


392

Q0197:Where in the electron transport chain do NADH and

FADH2 release their electrons?


393

Complex I


394

Q0198:Where in the electron transport chain is O2 reduced to

2H2O?


395

Complex IV


396

Q0199:Where in the electron transport chain is ADP

converted to ATP?


397

Complex V aka ATP synthase aka mitochondrial ATPase


398

Q0200:Name three classes of oxidative phosphorylation

poisons.


399

1. Electron transport inhibitors;2. ATPase inhibitors;3.

Uncoupling agents


400

Q0201:What is the mechanism of electron transport

inhibitors?


401

1. Directly inhibit electron transport causing;2. Decreased

protein gradient and decrease in O2 consumption; thereby;3.

Blocking ATP synthesis


402

Q0202:What is the mechanism of ATPase inhibitors?


403

1. Directly inhibit mitochondrial ATPase causing;2. Increased

protein gradient and increased oxygen consumption; but no

ATP is produced because electron transport stops.


404

Q0203:What is the mechanism of uncoupling agents?


405

"Uncouples" ATP synthesis from gradient production;1.

Increase permeability of membrane;2. Proton gradient

decreases; but oxygen consumption increases; as the gradient

is not being maintained;3. ATP synthesis stops; but electron

transport continues.


406

Q0204:What is rotenone?


407

An electron transport inhibitor.


408

Q0205:What is the mechanism of CN?


409

Electron transport inhibition


410

Q0206:What is the mechanism of CO?


411

Electron transport inhibition


412

Q0207:What is antimycin A?


413

An electron transport inhibitor.


414

Q0208:What is the mechanism of oligomycin?


415

ATPase inhibition


416

Q0209:What is the mechanism of thermogenin?


417

Uncoupling protein OR UCP which is an uncoupling agent


418

Q0210:Where is thermogenin found?


419

Brown adipose tissue


420

Q0211:What is the mechanism of 2;4-dinitrophenol?


421

Uncoupling agent


422

Q0212:Name three uncoupling agents


423

1. UCPs (such as Thermogenin);2. 2;4-dinitrophenol;3.

aspirin


424

Q0213:Name the irreversible enzymes in gluconeogenesis; and

where they are found.


425

Pathway Produces Fresh Glucose;All the enzymes are found

only in the liver; kidney; and intestinal epithelium;1. Pyruvate

carboxylase in the mitochondria;2. PEP carboxykinase in the

cytosol;3. Fructose-1;6-bisphosphatase in the cytosol;4.

Glucose-6-Phosphatase in the endoplasmic reticulum


426

Q0214:Name the irreversible enzymes in glycolysis.


427

1. Hexokinase;2. Phosphofructokinase-1;3. Pyruvate kinase;4.

Pyruvate dehydrogenase


428

Q0215:What are the requirements of PEP carboxykinase?


429

GTP


430

Q0216:Where does the pentose phosphate pathway happen?


431

Cytoplasm of Red Blood Cells; and in lactating mammary

glands; liver; and adrenal cortex (all sites of fatty acid or

steroid synthesis except RBCs)


432

Q0217:How much ATP is used in the pentose phosphate

shunt?


433


434

Q0218:What are the main products of the pentose phosphate

shunt and their uses?


435

1. NADPH (for fatty acid and steroid synthesis; glutathione

reduction; and cytochrome P-450);2. Ribose-5-phosphate (for

nucleotide synthesis);3. G3P and F6P (glycolytic

intermediates)


436

Q0219:What are the key enzymes of the pentose phosphate

shunt and are the reactions reversible or irreversible?


437

1. Glucose-6-phosphate dehydrogenase (irreversible);2.

Transketolase (reversible)


438

Q0220:What does transketolase require?


439

Thiamine (Vitamin B1)


440

Q0221:What is the rate-limiting enzyme in the Pentose

phosphate pathway?


441

Glucose-6-Phosphate Dehydrogenase


442

Q0222:What is glutathione used for?


443

Detoxification of free radicals and peroxides.


444

Q0223:What does NADPH deficiency in RBCs result in?


445

Hemolytic anemia


446

Q0224:Name some oxidizing agents that someone with a

G6PD deficiency is vulnerable to.


447

1. Fava beans;2. Sulfonamides;3. Primaquine;4.

Antituberculosis drugs


448

Q0225:What protection does G6PD deficiency provide?


449

Protection against malaria


450

Q0226:Which group is more likely to have G6PD deficiency?


451

Blacks


452

Q0227:What are Heinz bodies?


453

altered Hemoglobin precipitates within RBCs; found in G6PD

deficiency


454

Q0228:What histologic change is seen in G6PD deficiency


455

Heinz bodies within red blood cells


456

Q0229:What is the etiology of fructose intolerance?


457

1. Lack of aldolase B;2. Build up of Fructose-1-Phosphate;3.

Decrease in available phosphate;4. Inhibition of

glycogenolysis and gluconeogenesis


458

Q0230:What is the clinical presentation of fructose

intolerance?


459

hypoglycemia; jaundice; cirrhosis; and vomiting


460

Q0231:What is the difference in presentation between von

Gierke's disease and fructose intolerance?


461

Both have hypoglycemia; jaundice; cirrhosis and vomiting;von

Gierke's disease also has lactic acidosis whereas fructose

intolerance does not.


462

Q0232:What is the treatment for fructose intolerance?


463

Decreased intake of both fructose and sucrose.


464

Q0233:What is the etiology of essential fructosuria?


465

Defect in fructokinase leading to lack of metabolism of

fructose. Benign and asymptomatic


466

Q0234:What is the clinical presentation of essential

fructosuria?


467

Fructose appears in the blood and urine


468

Q0235:Which is more serious; essential fructosuria or fructose

intolerance?


469

Fructose intolerance; because it depletes the cells of

phosphate.


470

Q0236:What is the etiology of classic galactosemia?


471

1. Absence of galactose-1-phosphate uridyl transferase;2.

Build up of toxic substances including galactitol


472

Q0237:What is the presentation of classic galactosemia?


473

Early;1. Galactosemia;2. Galactosuria;3. Vomiting;4.

Diarrhea;5. Jaundice;Late;1. Cataracts;2.

Hepatosplenomegaly;3. Mental retardation


474

Q0238:How does galactokinase deficiency present?


475

1. Galactosemia;2. Galactosuria;More severe symptoms such

as cataracts; hepatosplenomegaly and mental retardation can

follow.


476

Q0239:What is the treatment for classic galactosemia?


477

Exclude galactose and lactose from the diet.


478

Q0240:What enzyme converts galactose to galactitol?


479

Aldose reductase


480

Q0241:What does aldose reductase do?


481

Converts galactose to galactitol


482

Q0242:What enzyme converts Galactose to galactose-1-

phosphate?


483

Galactokinase


484

Q0243:What enzyme converts Galactose-1-Phosphate to

Glucose-1-Phosphate?


485

Uridyl transferase


486

Q0244:What enzyme converts UDP-galactose to UDP-

glucose?


487

4-epimerase


488

Q0245:What does galactokinase do?


489

converts Galactose to galactose-1-phosphate


490

Q0246:What does 4-epimerase do?


491

converts between UDP-galactose and UDP-glucose


492

Q0247:What does Uridyl transferase do?


493

1. converts UDP-glucose to UDP-galactose;2. converts

Galactose-1-Phosphate to Glucose-1-Phosphate


494

Q0248:What enzyme converts UDP-glucose to UDP-

galactose?


495

Uridyl transferase


496

Q0249:Which groups are more likely to be lactose intolerant?


497

1. Blacks;2. Asians


498

Q0250:What is the etiology of lactose intolerance?


499

Loss of brush-border lactase


500

Q0251:How does lactose intolerance present?


501

1. Bloating;2. Cramps;3. Osmotic diarrhea


502

Q0252:What is the treatment for lactose intolerance?


503

Avoid milk or add lactase pills to the diet


504

Q0253:What are the essential amino acids?


505

PVT TIM HALL;1. Phenylalanine;2. Valine;3. Threonine;4.

Tryptophan;5. Isoleucine;6. Methionine;7. Histidine;8.

Alanine;9. Leucine;10. Lysine


506

Q0254:What are the conditionally essential amino acids; and

why are they conditionally essential?


507

The condition is age. They are necessary early in life during

growth;Mnemonic: Babies CRY for Help;1. Cysteine;2.

aRginine;3. tYrosine;4. Histidine


508

Q0255:Cysteine or Cystine: The amino acid


509

Cysteine


510

Q0256:Cysteine or Cystine: Two copies of the amino acid

joined by a disulfide bond


511

Cystine


512

Q0257:Is the following amino acid essential or inessential; and

is it glucogenic; ketogenic; or both?: Phenylalanine


513

Essential;Both glucogenic and ketogenic


514


is it glucogenic; ketogenic; or both?: Valine


515

Essential;Glucogenic


516


is it glucogenic; ketogenic; or both?: Tryptophan


517



518


is it glucogenic; ketogenic; or both?: Threonine


519



520


is it glucogenic; ketogenic; or both?: Isoleucine


521



522


is it glucogenic; ketogenic; or both?: Methionine


523



524


is it glucogenic; ketogenic; or both?: Histidine


525



526


is it glucogenic; ketogenic; or both?: Arginine


527



528


is it glucogenic; ketogenic; or both?: Leucine


529

Essential;Ketogenic


530


is it glucogenic; ketogenic; or both?: Lysine


531

Essential;Ketogenic


532


is it glucogenic; ketogenic; or both?: Tyrosine


533

Conditionally essential (during life and early

growth);(Phenylalanine and Tetrahydrobiopterin produce

tyrosine and dihydrobiopterin);Both glucogenic and ketogenic


534


is it glucogenic; ketogenic; or both?: Glutamate


535

Inessential (made from alpha-ketoglutarate);Glucogenic


536


is it glucogenic; ketogenic; or both?: Aspartate


537

Inessential (made from asparagine or oxaloacetate by aspartate

aminotransferase);Glucogenic


538


is it glucogenic; ketogenic; or both?: Proline


539

Inessential (Glutamate makes proline and

ornithine);Glucogenic


540


is it glucogenic; ketogenic; or both?: Glycine


541

Inessential (synthesized during reactions involving

tetrahydrofolate);Glucogenic


542


is it glucogenic; ketogenic; or both?: Cysteine


543

Conditionally essential (during life and early

growth);(Methionine begets S-adenosyl methionine which

begets intermediates which beget cysteine);Glucogenic


544


is it glucogenic; ketogenic; or both?: Alanine


545

Inessential (made from pyruvate by alanine aminotransferase

in the Cori cycle);Glucogenic


546


is it glucogenic; ketogenic; or both?: Serine


547

Inessential (made from a descendant of 3PG and with an

amine group from glutamate);Glucogenic


548


is it glucogenic; ketogenic; or both?: Glutamine


549

Inessential (made from glutamate);Glucogenic


550


is it glucogenic; ketogenic; or both?: Asparagine


551

Inessential (made from aspartate);Glucogenic


552

Q0277:Which amino acids are acidic?


553

Aspartate and glutamate are negatively charged at body pH


554

Q0278:Which amino acids are basic?


555

Arginine; Lysine and Histidine;Arginine and Lysine are

increased in histones which bind negatively charged

DNA;Histidine has no charge at body pH.


556

Q0279:Zinc deficiency: Presentation


557

"Delayed wound healing; hypogonadism; and decreased adult

hair (axillary; facial; pubic)"


558

Q0280:Zinc deficiency: Predisposes to what?


559

Alcoholic cirrhosis


560

Q0281:Ethanol metabolism: All steps with enzymes and

cofactors


561

"Step 1: Ethanol is oxidized by NAD (forming NADH) to

acetaldehyde using alcohol dehydrogenase. Step 2:

Acetaldehyde is oxidized by NAD (forming NADH) to

acetate using acetaldehyde dehydrogenase."


562

Q0282:Ethanol metabolism: Limiting reagent


563

NAD+


564

Q0283:Ethanol metabolism: Order of kinetics of alcohol

dehydrogenase


565

Zero-order kinetics


566

Q0284:Disulfiram: Mechanism


567

"Disulfiram inhibits acetaldehyde dehydrogenase; leading to

an accumulation of acetaldehyde; leading to increased

hangover symptoms."


568

Q0285:Which drug inhibits acetaldehyde dehydrogenase?


569

Disulfiram


570

Q0286:Ethanol hypoglycemia: mechanism


571

"1. Ethanol metabolism increases NADH/NAD ratio in the

liver. 2. Pyruvate and oxaloacetate are reduced by NADH

respectively to lactate and malate. 3. Decreased pyruvate and

oxaloacetate leads to decreased gluconeogenesis. 4. Decreased

gluconeogenesis leads to hypoglycemia."


572

Q0287:What are the consequences of the altered

NADH/NAD ratio seen in alcoholics?


573

"Short-term: Hypoglycemia; Long-term: Hepatic fatty

change"


574

Q0288:What is the mechanism behind chronic fatty change in

alcoholics?


575

"1. Ethanol metabolism leads to an increased NADH/NAD

ratio in the liver. 2. This ratio prefers fatty acid synthesis

over glycolysis."


576

Q0289:Kwashiorkor: Clinical picture


577

Small child with a swollen belly and depigmented hair.


578

Q0290:Kwashiorkor: Clinical presentation


579

"Kwashiorkor results from protein-deficient MEALS.

Malabsorbtion; Edema; Anemia; Liver (fatty change); Skin

lesions"


580

Q0291:Protein malnutrition leads to what disease?


581

Kwashiorkor (as opposed to Marasmus from energy

malnutrition)


582

Q0292:Energy malnutrition leads to what disease?


583

Marasmus (as opposed to Kwashiorkor from protein

malnutrition)


584

Q0293:Marasmus: Clinical presentation


585

"Tissue and muscle wasting; loss of subcutaneous fat; and

variable edema"


586

Q0294:"Chromatin structure: In the beads on a string analogy;

what are the beads?"


587

"Start with a nucleosome core made up of an 8 histone cube

(two each of positively-charged histones H2A; H2B; H3; and

H4). Negatively charged DNA loops twice around

nucleosome core."


588

Q0295:"Chromatin structure: In the beads on a string analogy;

what is the string and how long is it?"


589

Histone H1 ties the nucleosomes together in a 30-nm fiber

string


590

Q0296:Chromatin structure: What histones are included and

which of these are not in the nucleosome core?


591

"H1 (only one not in the core); H2A; H2B; H3; and H4"


592

Q0297:Heterochromatin or Euchromatin: Which is more

condensed?


593

Heterochromatin. Euchromatin is less condensed.


594

Q0298:Heterochromatin or Euchromatin: Which is less

condensed?


595

Euchromatin. Heterochromatin is more condensed.


596

Q0299:Heterochromatin or Euchromatin: Which is

transcriptionally active?


597

"Euchromatin (""eu"" means true; so think ""truly

transcribed"")"


598

Q0300:Heterochromatin or Euchromatin: Which is

transcriptionally inactive?


599

Heterochromatin


600

Q0301:Name the purines.


601

Adenine and Guanine


602

Q0302:Name the pyrimidines.


603

"Cytosine; Uracil; Thymine"


604

Q0303:Which base pair bond has 3 Hydrogen bonds?


605

Guanine to Cytosine


606

Q0304:Which base pair bond has 2 Hydrogen bonds?


607

Adenine to Thymine


608

Q0305:How many Hydrogen bonds does the Guanine to

Cytosine pairing have?


609

3


610

Q0306:How many Hydrogen bonds does the Adenine to

Thymine pairing have?


611

2


612

Q0307:Which amino acids are necessary for purine synthesis?


613

"Glycine; Aspartate; Glutamine"


614

Q0308:"In nucleic acids; what kind of substitution is a

transition?"


615

"TransItion = Identical type (Purine for purine or pyrimidine

for pyrimidine")


616

Q0309:"In nucleic acids; what kind of substitution is a

transversion?"


617

"TransVersion = conVersion between types (Purine for

pyrimidine or vice versa")


618

Q0310:What does it mean for genetic code to be

unambiguous?


619

Each codon specifies only one amino acid.


620

Q0311:What does it mean for genetic code to be degenerate?


621

More than one codon may code for the same amino acid.


622

Q0312:What does it mean for genetic code to be redundant?


623

More than one codon may code for the same amino acid.


624

Q0313:Which amino acid is coded by only one codon?


625

Methionine


626

Q0314:"~ average pKa of carboxyl group on AA"


627

2.3


628

Q0315:"~ pKa of side chain of Aspartic Acid"


629

"<4"


630

Q0316:"~ pKa of side chain of Glutamic Acid"


631

">4"


632

Q0317:"~ pKa of side chain of Histidine"


633

6


634

Q0318:"~ pKa of side chain of Cysteine"


635

8


636

Q0319:"~ average pKa of amino group on AA"


637

9.6


638

Q0320:"~ pKa of side chain of Tyrosine"


639

10


640

Q0321:"~ pKa of side chain of Lysine"


641

10.5


642

Q0322:"~ pKa of side chain of Arginine"


643

12.5


644

Q0323:"An acid with a pKa of x serves as a buffer best at x +

what?"


645

"positive or negative 1 (equal amounts of charged and

uncharged acid)"


646

Q0324:"Trypsin cleaves peptides at which side of what

residues?"


647

"C-terminal of lysine or arginine (the most basic amino acids)"


648

Q0325:"Cyanogen bromide cleaves peptides at which side of

what residues?"


649

"C-terminal of methionine"


650

Q0326:"Pepsin cleaves peptides at which side of what

residues?"


651

"C-terminal side of tyrosine; phenylalanine; and tryptophan

(all have phenyl groups; these are the same bonds as

chymotrypsin. Pepsin's action ceases when the NaHCO3

raises the pH of the intestinal contents)"


652

Q0327:"Chymotrypsin cleaves peptides at which side of

what residues?"


653

"C-terminal side of tyrosine; phenylalanine; and tryptophan

residues (all have phenyl groups; these are the same bonds as

pepsin; whose action ceases when the NaHCO3 raises the pH

of the intestinal contents)."


654

Q0328:"# of aas in one turn of alpha-helix"


655

3.6


656

Q0329:"Amino acids that disrupt alpha-helix"


657

"proline; many charged aas; bulky side chains"


658

Q0330:"Which reagent sequentially removes N-terminal

residues from a polypeptide?"


659

"Phenylisothiocyanate (Edman degradation)"


660

Q0331:"Which reagent sequentially removes C-terminal

residues from a polypeptide?"


661

"Carboxypeptidase"


662

Q0332:"What kind of inheritance and mutation is the alpha-1-

antitrypsin deficiency?"


663

"Autosomal recessive; single purine substitution (GAG to

AAG)"


664

Q0333:"Anode: What does it attract?"


665

"Anions"


666

Q0334:"Anode: What does it contain?"


667

"Cations"


668

Q0335:"Cathode: What does it attract?"


669

"Cations"


670

Q0336:"Cathode: What does it contain?"


671

"Anions"


672

Q0337:"Inhibitors of electron transport from FMNH2 to

Coenzyme Q"


673

"Amytal and Rotenone"


674

Q0338:"Inhibitors of electron transport from Cytochrome b

to Cytochrome c"


675

"Antimycin A"


676

Q0339:"Inhibitors of electron transport from Cytochrome

a+a3 to Oxygen"


677

"Cyanide; CO; and Sodium azide"


678

Q0340:"Where do GLUT1 receptors predominate over other

GLUT receptors?"


679

"RBCs"


680

Q0341:"Where do GLUT4 receptors predominate over other

GLUT receptors?"


681

"Adipose tissue and skeletal muscle"


682

Q0342:"Which tissues have cotransport of glucose?"


683

"Epithelial cells of the intestine; renal tubular cells; and

choroid plexus"


684

Q0343:"Which tissues (7) need glucose as fuel?"


685

"Brain; RBCs; Renal medulla; lens; cornea; testes; exercising

muscle"


686

Q0344:"Where is pyruvate carboxylase found and not

found?"


687

"Found in mitochondria of liver and kidney cells; not foudn in

mitochondria of muscle"


688

Q0345:"Where is Fructose 1-6 bisphosphatase found?"


689

"Liver and kidney"


690

Q0346:"What is the Cori cycle?"


691

"Lactate in muscle is shuttled to liver where it is turned into

glucose."


692

Q0347:"How does glucagon stimulate gluconeogenesis?"


693

"Regulation of F2;6-BP and inactivation of Pyruvate Kinase

via elevation of cAMP-dependent protein kinase A."


694

Q0348:"This oxidation accounts for about two thirds of the

total oxygen consumption and ATP production in most

animals; including humans."


695

"Oxidation of acetyl coA to CO2 and H2O."


696

Q0349:"What inhibits pyruvate dehydrogenase?"


697

"Acetyl CoA and NADH (no need for more of either). These

activate PD kinase (Phosphorylates enzyme with ATP;

which must be in abundance; so no more is needed)"


698

Q0350:"What stimulates pyruvate dehydrogenase?"


699

"ADP (need more ATP. Inhibits PD kinase and stimulates PD

phosphatase.)"


700

Q0351:"Which is active?: Phosphorylated or

dephosphorylated pyruvate dehydrogenase"


701

"Dephosphorylated."


702

Q0352:"What inhibits citrate synthase?"


703

"ATP and NADH (no need for more of either); Succinyl CoA

(""Slow down partner; the guys ahead of you are trying to do

their job!""); Acyl CoA fatty acid derivatives (Citrate

provides acetyl CoA to synthesize fatty acids and activates

acetyl CoA carboxylase; rate limiting enzyme of fatty acid

synthesis)."


704

Q0353:"Where in glycolysis and TCA does CO2 come off?"


705

"3 places: Pyruvate to Acetyl CoA; Isocitrate to alpha-

ketoglutarate; and alpha-ketoglutarate to Succinyl CoA"


706

Q0354:"What is the rate-limiting step of the TCA?"


707

"Isocitrate to alpha-ketoglutarate by isocitrate

dehydrogenase"


708

Q0355:"What activates isocitrate dehydrogenase?"


709

"ADP"


710

Q0356:"What inhibits isocitrate dehydrogenase?"


711

"ATP and NADH"


712

Q0357:"Sources of Succinyl CoA"


713

"TCA intermediate; and from odd chained fatty acids; and

from propionyl coA from metabolism of branched-chain

amino acids."


714

Q0358:"Uses of Succinyl CoA"


715

"TCA intermediate; and biosynthesis of heme"


716

Q0359:"Where in the TCA does NADH come from?"


717

"Pyruvate to Acetyl CoA; Isocitrate to alpha-ketoglutarate;

alpha-ketoglutarate to succinyl coA; Malate to Oxaloacetate"


718

Q0360:"Where in the TCA does FADH2 come from my

dear?"


719

"Succinate to fumarate my sweet."


720

Q0361:"Why is FAD used to oxidize succinate?"


721

"Succinate is not powerful enough to reduce NAD."


722

Q0362:"What are the important products of the HMP

pathway?"


723

"2 NADPH; Ribose; and glyceraldehyde-3-Phosphate and

Fructose-6-phosphate"


724

Q0363:"Which major metabolic reactions require Thiamine as

a cofactor?"


725

"TCA: Pyruvate dehydrogenase and alpha-ketoglutarate

dehydrogenase; HMP shunt: Transketolase"


726

Q0364:"What is NADPH used for?"


727

"1. Reductive biosynthesis (eg fatty acids and steroids) 2.

Reduction of oxygen directly (myeloperoxidase system's

famed respiratory burst) and hydrogen peroxide indirectly

(through reduction of glutathione) 3. Cytochrome P-450

mono-oxygenase system"


728

Q0365:"What is the famed respiratory burst?"


729

"The rapid conversion of O2 to superoxide using NADPH."


730

Q0366:"What disease process is due to a missing respiratory

burst?"


731

"Chronic granulomatous disease"


732

Q0367:"Where is the mutation for G6PD?"


733

"Point mutation in coding region of the G6PD gene (X-

linked)"


734

Q0368:"What is the relation of polyols to sugars?"


735

"Polyols are monosaccharides where the carbonyl group is

reduced to an alcohol."


736

Q0369:"What is a glycoside?"


737

"Carbohydrate attached to non-carbohydrate structures."


738

Q0370:"What is a reducing sugar?"


739

"A monosaccharide where the anomeric carbon (Carbon 1) is

free."


740

Q0371:"What is the result of lack of disaccharidase activity of

intestinal mucosa?"


741

"Osmotically active disaccharides suck water out of mucosa

causing osmotic diarrhea."


742

Q0372:"Where is fructokinase found?"


743

"Liver (processes most dietary fructose); kidney; small

intestine"


744

Q0373:"Why is fructose metabolism faster than glucose

metabolism?"


745

"Bypasses PFK; major regulatory step of glycolysis."


746

Q0374:"What enzyme is missing in hereditary fructose

intolerance?"


747

"Aldolase B"


748

Q0375:"What does aldose reductase do?"


749

"Reduces glucose to sorbitol"


750

Q0376:"Where is aldose reductase found?"


751

"Lens; retina; Schwann cells; kidney; placenta; RBCs; and

gonads"


752

Q0377:"What does sorbitol dehydrogenase do?"


753

"Oxidizes sorbitol to fructose."


754

Q0378:"Where is sorbitol dehydrogenase found?"


755

"Liver and gonads (ovaries; seminal vesicles; sperm)"


756

Q0379:"Mechanism of sorbitol toxicity"


757

"Extra glucose freely enters cells containing aldose reductase

which converts it to sorbitol. Sorbitol may not pass through;

and low or absent sorbitol dehydrogenase prevents it from

being changed to fructose. Strong osmotic effects lead to

swelling and damage."


758

Q0380:"Chondroitin Sulfate: Where found?/Distinguishing

characteristic from other GAGs"


759

"Cartilage; tendons; ligaments; aorta. Most abundant GAG in

body."


760

Q0381:"Chondroitin Sulfate: Use/Mechanism"


761

"Form proteoglycan aggregates. Cartilage: Bind collagen and

hold fibers in a tight; strong network"


762

Q0382:"Dermatan Sulfate: Where found?/Distinguishing



763

"Found in skin; blood vessels; and heart valves"


764

Q0383:"Dermatan Sulfate: Use/Mechanism"


765


766

Q0384:"Keratan Sulfate: Where found?/Distinguishing



767

"Found in cartilage proteoglycan aggregates with chondroitin

sulfate; and in cornea. Most heterogeneous GAG."


768

Q0385:"Keratan Sulfate: Use/Mechanism"


769


770

Q0386:"Heparin: Where found?/Distinguishing characteristic

from other GAGs"


771

"Intracellular compound (unlike other GAGs). Found in mast

cells of artery walls; especially in lungs; liver; and skin"


772

Q0387:"Heparin: Use/Mechanism"


773

"Anticoagulant"


774

Q0388:"Heparan Sulfate: Where found?/Distinguishing



775

"Extracellular; unlike heparin. Found in basement membrane

and as a ubiquitous component of cell surfaces."


776

Q0389:"Heparan Sulfate: Use/Mechanism"


777


778

Q0390:"Hyaluronic Acid: Where found?/Distinguishing



779

"Found in synovial fluid of joints; vitreous humor f eye;

umbilical cord; and loose connective tissue. Unlike other

GAGs: Unsulfated; not covalently attached to protein; and

only GAG not limited to animal tissue; but also found in

bacteria."


780

Q0391:"Hyaluronic Acid: Use/Mechanism"


781

"Lubricant and shock absorber"


782

Q0392:"Hunter's Syndrome vs Hurler's Syndrome: Enzyme

deficiency"


783

"Hunter's: Iduronate sulfatase; Hurler's: alpha-L-iduronidase"


784

Q0393:"Hunter's Syndrome vs Hurler's Syndrome: Corneal

clouding?"


785

"Hunter's: No; Hurler's: Yes"


786

Q0394:"Hunter's Syndrome vs Hurler's Syndrome: Mental

retardation?"


787

"Both (Hunter's ranges from mild to severe)"


788

Q0395:"Hunter's Syndrome vs Hurler's Syndrome: Physical

deformity?"


789

"Hunter's: Mild to severe; Hurler's: Dwarfing; coarse facial

features; (gargoylism)"


790

Q0396:"Hunter's Syndrome vs Hurler's Syndrome: Which

GAGs' degradation is affected?"


791

"Both: Dermatan sulfate and Heparan sulfate"


792

Q0397:"Hunter's Syndrome vs Hurler's Syndrome: Severity?"


793

"Hunter's: Less Hurler's: More"


794

Q0398:"Hunter's Syndrome vs Hurler's Syndrome:

Inheritance?"


795

"Hunter's: X-linked Recessive; Hurler's (and all other

mucopolysaccharidoses): Autosomal recessive"


796

Q0399:"Hunter's Syndrome vs Hurler's Syndrome: Aggressive

behavior?"


797

"Hunter's: Yes; Hurler's: No"


798

Q0400:"Mnemonic for Hurler's syndrome: HURLERS. What

does it stand for?"


799

"H: Hepatosplenomegaly/Heparan and Dermatan sulfate;

U:Ugly facies; R: aRteries filled with GAGs; L: L-

iduronidase; E: Eyes clouded; early death; R:

Retardation/Respiratory obstruction; S: Short/stubby fingers"


800

Q0401:"I-Cell disease: Pathophysiology"


801

"Inability of cell to phosphorylate mannose residues on

glycoproteins indicating that they are lysosome bound."


802

Q0402:"I-Cell disease: Presentation"


803

"Skeletal abnormalities; restricted joint movement; coarse

facial features; severe psychomotor impairment; death by 8

years"


804

Q0403:"Refsum Disease: Pathophysiology"


805

"Inability to degrade phytanic acid; resulting in accumulation

in plasma and tissues"


806

Q0404:What is PKU?


807

think smelly; retarded babies


808

Q0405:What's one reason that binging on booze is a bad idea

(aside from the ugly people you might sleep with;)?


809

alcohol-> increased NADH -> decreased gluconeogenesis ->

acidosis -> huge ER bill


810

Q0406:What is Kwashiorkor?


811

think Starvin' Marvin


812

Q0407:What's another reason for not being an alky (besides

the meetings)?


813

pellegra- vitamin B3 deficit that gives you a rash; the shits;

and altered mental status (even when sober)


814

Q0408:Why is my urine black and what the Hell are these

black dots on my eyes?!


815

alkaptonuria


816

Q0409:What is familial hypercholesterolemia?


817

defective LDL receptors-> accelerated atherosclerosis &

xanthomas


818

Q0410:Name the fat soluble vitamins; Fat Ass!


819

think Eating Donuts Adds Kilocalories!


820

Q0411:Why could a person be deficient in fat soluble

vitamins (esp considering that most of us have plenty of

space to store these buggers!)?


821

think malabsorption- sprue; CF; too much of Mom's mineral

oil tx (a spoon a day keeps the enema away!)


822

Q0412:What do B vitamin deficiencies result in (other than

pernicious anemia)?


823

dermatitis; glossitis; shits


824

Q0413:What is beriberi? Hint: It's not a Voodoo curse.


825

vitamin B1 deficiency; spell it ber1ber1 (1=i); B1 is required

for TPP (generates pyruvate) & transketolase (HMP shunt)


826

Q0414:What's the difference b/w wet & dry beriberi (other

than that not so fresh feeling)?


827

dry= polyneuritis; muscle wasting;wet=dilated

cardiomyopathy; edema


828

Q0415:What happens when you don't get your riboflavin

(B2) on?


829

it's important to have ribo-"flava" (not just b/c the chicks dig

it) but FAD & FMN come from it; flava is not just a FAD

but a Functionally Mandatory Necessity! not having flava

causes angular stomatitis; cheliosis; & corneal vascularization

(chicks don't dig this)


830

Q0416:What the Hell is Pantothenate? Is that the crap in

Pantene that will give my hair lusterous shine upon one

washing?


831

it's B5. it helps make CoA & fatty acid synthase (no wonder

why i'm so damn sexy!); lack of B5 gives you dermatitis;

enteritis; alopecia & adrenal insufficiency. com'on girls; no

guy wants a flaky skinned; bald girlfriend who's adrenal glands

don't put out; so take your vitamins!


832

Q0417:Was I absent the day we learned about pyridoxine

(B6) or do I merely have a B6 deficiency?


833

I was probably in class the day they taught this but suffering

from convulsions/hyperirritablity due to my B6 deficiency

brought on by the stresses of med school. it turns out that B6

is needed for ALT; AST (transamination); decarboxylation; &

heme synthesis.


834

Q0418:Why is B12 important (for the umpteenth thousand

time)?


835

B12 (aka cobalamin)required for homocysteine methylation &

methylmalonyl-CoA handling; decreased homocysteine->

decreased methionine-> messed up myelin & increased

methylmalonyl-CoA-> increased methylmalonic acid->

messed up myelin; vegetarians eat your heart out (no really;

b/c its full of the B12 you'll need to thwart off macrocytic;

megaloblastic anemia); US causes are due to malabsorption (vs

dietary insufficiency); think sprue; Crohn's; pernicious

anemia; do a Schilling test


836

Q0419:Why is folic acid so important? Does it justify all of

the public service announcements?!


837

geeze; it's only important if you want to synthesize

DNA/RNA! why the concern??


838

Q0420:What's biotin? Sounds like some tree hugging herbal

medicine crap!


839

biotin is needed for carboxylating (eg oxaloacetate; malonyo-

CoA; methylmalonyl-CoA); deficits lead to dermatitis &

enteritis due to antibiotic use or ingesting raw eggs (Rocky

must have had some mad IBS!)


840

Q0421:Why do we need vitamin D?


841

b/c we don't want rickets! there is such thing as too much of a

good thing; though- too much vitamin D-> hypercalcemia;

stupor (think sarcoidosis)


842

Q0422:Why does Mom always shove vitamin C down your

throat?


843

no Mom wants a kid w/scurvy unless she's British. vitamin C

cross links collagen for healing; facilitates iron absorption; &

needed for dopamine synthesis (is this why the British are so

static?)


844

Q0423:What does vitamin E do?


845

protects RBCs


846

Q0424:What does vitamin K do?


847

K is for koagulation (spelling proficiency wasn't a requirement

for med school matriculation); intestinal coodies are required

for its synthesis (this is why babies & pts on broad spectrum

anti-biotics have increased PT & PTT; warfin is it's nemesis

(warfin is at war w/ vitamin K)


848

Q0425:Who are vitamin K's dependents?


849

after much investigation; the family court ruled that vitamin K

is responsible supporting its progenous clotting factors II;

VII; IX; X; & protein C (until age 18 whereby his progeny

will bleed to death)


850

Q0426:What vitamin keeps your testicles plump and your

hair flowing? (Guys; take notes!)


851

zinc; aside from small balls and baldness; lack of zinc will

cause delayed wound healing & predispose you to alcoholic

cirrhosis!


852

Q0427:Explain ethanol metabolism (and don't say you're too

drunk to remember!)


853

ethanol-> acetaldehyde-> acetate; requires alcohol

dehydrogenase; acetaldehyde dehydrogenase; NAD+; NADH;

NAD+ is limiting reagent


854

Q0428:What gives you a hang-over? Hint: the answer isn't St.

Ides Malt Liquor (although this is justifiable).


855

saturation of acetylaldehyde dehydrogenase; this is how

antabuse works


856

Q0429:What is marasmus?


857

tissue/muscle wasting due to energy malnutrition (compare

w/Kwashiorkor)


858

Q0430:What is a nucleosome?


859

it's the DNA AND core histones; the "beads" on the string

that; altogether; comprise what's called chromatin


860

Q0431:What's so cool about H1 (histone 1)?


861

it's the histone that ties all the nucleosomes together. H1 is a

rebel; not part of the core b/c it's too cool for the core.


862

Q0432:What is heterochromatin? Hint: chromatin does not

have a sexual preference.


863

this is the transcriptionally abstaining form of chromatin. it's

very uptight (looped around histones). it's not promiscuous

like that loose slut euchromatin.


864

Q0433:Name the purines?


865

think "pure As Gold"- A;G


866

Q0434:What nucleotides bind to which?


867

G-C (strongest); A-T


868

Q0435:What goes into making a good purine?


869

besides sugar and spice and everything nice; purines require

glycine; aspartate; and glutamine


870

Q0436:What's this difference b/w a transition mistake & a

transversion mistake?


871

transItion= Identical substitute;transVersion= conVersion b/w

types


872

Q0437:Why will mother nature never receive a Pulitzer Prize?


873

b/c her writing is redundant and lacks punctuation. in her

defense; her writing is also unambiguous & used universally


874

Q0438:What's a silent mutation?


875

it's more palatable than a missense or nonsense mutation.

think "it is better to remain silent & be thought a fool then to

speak & remove all doubt". silent mutations are often the

result of a tRNA wobble at the 3rd position (damn it tRNA;

switch to decaf!)


876

Q0439:What is a missense mutation?


877

it's replacing one aa with a similar aa. kind of like substituting

a democrat with a republican.


878

Q0440:What is a nonsense mutation?


879

think stop the nonsense


880

Q0441:What is a frame shift mutation?


881

this is really bad. its when your tRNA starts reading The

Oddessy but becomes impatient & settles for the Cliff Notes.


882

Q0442:How are DNA topoisomerases & conditioner alike?


883

they both remove those pesky tangles!


884

Q0443:Why is DNA so codependent?


885

DNA; like many of us; needs the motivation of another to

function. primase is the muse of DNA. she (or he) makes the

RNA primer on which DNA polymerase III can begin

replication.


886

Q0444:Does DNA polymerase ever look back?


887

it may seem that DNA polymerase has no regrets and

unaffectedly carries on in his 5'->3' direction. in truth; though;

he is very aware of his past mistakes & corrects them in the

3'->5' direction with exonucleases.


888

Q0445:What does DNA polymerase I have against RNA

primer?


889

she has always hated that tart; RNA primer. thus she uses her

exonucleases to degrade RNA primer at any given chance &

fills in the gaps w/DNA (she is much against

interrelationships b/w RNA & DNA (she's a deoxyribose

supremicist).


890

Q0446:What keeps us from getting xeroderma pigmentosa?


891

we have endonucleases that kick out messed up nucleotides.


892

Q0447:Are all bases created equal?


893

NO! we make a lot of messed up bases that glycolases remove

by cutting the base out at a pyramimidic site.


894

Q0448:What happens when there're irreconsilable differences

b/w nucleotides?


895

if counseling doesn't work; then your body may hire a

mismatch repair attorney. people w/hereditary nonpolyposis

colon cancer lack access to litigation.


896

Q0449:What are the different kinds of RNA polymerases in

eukaryotes?


897

I=rRNA;II=mRNA;III=tRNA


898

Q0450:Which RNA polymerase helps DNA open up?


899

II=mRNA poly. her nemesis is her mother-in-law alpha-

amantin (she thwarts all efforts of mRNA poly by serving her

death cap mushrooms at all family get togethers).


900

Q0451:When does transcription begin?


901

in AUG just like school. codes for methionine


902

Q0452:When does transcription end (and don't say JUN)?


903

think U Go Away; U Are Away; U Are Gone (geeze; mRNA

can take a hint!).


904

Q0453:What is a promoter?


905

well DNA likes to be recognized for its contributions too. it

takes a lot of work to make protein & this should be

rewarded. DNA doesn't care about money; having a trust fund

an all; DNA is rewarded for its efforts by being somewhat

relieved of duty by RNA poly & other transcription factors.

this only takes place after DNA has done most of the work &

has reached a TATA or CAAT box.


906

Q0454:What is an enhancer?


907

area of DNA that attracts transcription factors that enhance

gene expression.


908

Q0455:What is an operator?


909

area of DNA that attracts transcription factors that repress

gene expression.


910

Q0456:What's the difference b/w an intron & exon?


911

exons are what contribute to your growth while introns are

just interuptions along the way (kind of like your first

boyfriends); introns remain in the nucleus.


912

Q0457:How does hnRNA become whole in spite of all of her

intron baggage?


913

well differences are the "splice" of life; so hnRNA discovers

new meaning by redefining herself via new experiences. she

decides to move on w/the aide of her snRP friends; forming a

spliceosome alliance. They help her release her intron baggage;

thereby allowing her to persue healthy relationships w/exons.

happy w/the exons; hnRNA agrees to seal the deal by capping

& polyadenylation (huge commitment). she is now referred to

as mRNA (she's old fashioned & conceeded to the name

change).


914

Q0458:What is Pellegra?


915

think 3D: diarrhea; dermatitis; dementia; caused by niacin

(B3) def or a tryptophan def; B3 comes from tryptophan.


916

Q0459:Name the Vitamin D forms.


917

D2= ergocalciferol (drink milk); D3= cholecalciferol (get some

sun); 25-OH D3= storage; 1;25 (OH)2 D3= active form->

intestinal absorption of calcium & phosphate.


918

Q0460:What is tRNA?


919

transfer RNA is the pre-aminoacid. the amino acid is

covalently attached to its 3' end.


920

Q0461:What does tRNA look like?


921

cloverleaf shape; CCA at 3'end.


922

Q0462:what is aminoacyl-tRNA synthetase?


923

it's the enzyme that makes the amino acid; there's 1 for every

kind of amino acid; it is also a proof reader for its amino acid;

it requires ATP to make a peptide bond but will read the

transcript w/o it.


924

Q0463:why does tRNA wobble?


925

b/c it need only accurately read the first two nucleotides; then

it can just insert whatever (hopefully a nucleotide that codes

for the proper amino acid).


926

Q0464:How is protein synthesis initiated?


927

a 30S ribosome unit/initiator tRNA are hooked up w/the

assistance of initiation factors


928

Q0465:what happens during elongation?


929

1. aminoacyl tRNA binds to A site 2. peptidyltransferase

makes a peptide bond & transfers growing polypeptide chain

to A site 3. ribosome cruises 3 nucleotides toward 3' RNA

while moving peptidyl RNA to P site.


930

Q0466:how is protein synthesis terminated?


931

protein is released from ribosome.


932

Q0467:what is the E site of the ribosome?


933

where tRNA is held while exiting.


934

Q0468:what is trimming?


935

post-translational modification; removal of N or C terminal

from a zymogen.


936

Q0469:what is a covalent modification?


937

post-translational phosphor/glycos/hydroxylation.


938

Q0470:what does ubiquitin do?


939

it is the scarlet letter to be worn by defective proteins.


940

Q0471:how are cell cycles regulated?


941

by checkpoints that control the cell phases; regulators include

cyclins; cdks; & tumor suppressors.


942

Q0472:what's included in mitosis?


943

PMAT; this is the shortest phase.


944

Q0473:what's included in interphase?


945

G1; S ; G2


946

Q0474:what's Go? Hint: it's not that lame movie.


947

it's where permanent cells stay if you refrain from dropping

acid. neurons; skeletal mm; RBCs; cardiac mm.


948

Q0475:what are stable cells?


949

although they are compliant w/their Prosac tx; they are also

capable of entering G1 if stimulated; otherwise they'll stay in

G1; hepatocytes; lymphocytes


950

Q0476:what are labile cells?


951

they never Go; they are always movin' rapidly; though;

marrow; gut epithelium; hair


952

Q0477:What takes place in the rough ER?


953

synthesis of exported secretory proteins & N-linked

oligosaccharide addition (eg goblet cells & plasma cells are rich

w/rough ER).


954

Q0478:What tkaes place in the smooth ER?


955

site of steriod synthesis & detox.


956

Q0479:What does the golgi do?


957

processing & packaging of proteins & lipids from ER to

plasma membrane; modifies N-oligosaccharides on asparagine;

adds O-oligisaccharides to serine & threonine; adds mannose-

6-P; assembles & sulfates proteoglycans & tyrosine.


958

Q0480:What is I-cell disease?


959

when mannose-6-P addition by the golgi doesn't target

lysosome proteins to lysosome; coarse face; clouded corneas;

restricted jiont movement; high plasma lysosomal enzymes;

fatal in childhood.


960

Q0481:What is COPI?


961

vesicular trafficking protein; golgi -> ER (retrograde).


962

Q0482:What is COPII?


963

vesicular trafficking protein; RER -> cis-golgi (anterograde).


964

Q0483:What is clathrin?


965

vesicular trafficking protein; trans-golgi -> lysosomes; plasma

membrane -> endosomes.


966

Q0484:What are microtubules?


967

polymerized dimers of alpha/beta-tubulin; 2GTP

bound/dimer; part of flagella; cilia; & spindles.


968

Q0485:Name 5 drugs that act on microtubules?


969

mebendazole; taxol; griseofulvin; vincristine; colchicine.


970

Q0486:What is Chediak-Higashi syndrome?


971

microtubule polymerization defect.


972

Q0487:What are cilia made of?


973

microtubule doublets (9 +2)linked by dynein ATPase.


974

Q0488:What is Kartagener's syndrome?


975

defective dynein resulting in defective cilia.


976

Q0489:What is the plasma membrane made of?


977

cholesterol; phospholipids; sphingolipids; glycolipids;

proteins.


978

Q0490:What is phosphatidylcholine(aka lecithin)?


979

component of RBC membrane; myelin; bile; & surfactant;

esterfies cholesterol (eg LCAT).


980

Q0491:Name 2 drugs that inhibit the sodium pump?


981

ouabain binds K+ site; cardiac glycosides inhibit

Na+/K+ATPase.


982

Q0492:Name the 4 types of collagen.


983

type 1= bone; skin; tendon; cornea; type II= catilage; type III

= reticulin; type VI= basement membrane.


984

Q0493:What cells make collagen?


985

fibroblasts.


986

Q0494:How is collagen made?


987

preprocollagen synthesized in RER-> hydroxylation (req

Vitamin C)-> glycosylation in golgi & synthesis of

procollagen; exocytosis; proteolysis into tropocollagen;

crosslinking forms collagen fibrils.


988

Q0495:What is Ehlers-Danlos syndrome?


989

defective collagen synthesis; hyperextendible skin; bruising;

hypermobile joints; assoc w/berry aneurysms; inherited.


990

Q0496:What is osteogenesis imperfecta?


991

abnormal type I collagen synthesis; autosomal dominant;

fractures; blue sclerae; hearing loss; dental problems.


992

Q0497:What is Marfan's syndrome?


993

defective fibrillin.


994

Q0498:What is elastin made of?


995

non-hydroxylated proline & lysine; elastin= tropoelastin +

fibrillin scaffolding; elastase allows relaxed form; alpha1-

antitrypsin inhibits elastase.


996

Q0499:What happens in the mitochondria?


997

beta-oxidation; acetyl-CoA production; Kreb's cycle.


998

Q0500:What happens in the cytoplasm?


999

glycolysis; fatty acid synthesis; TTP shunt; protein synthesis

(RER); steroid synthesis (SER).


1000

Q0501:What happens in both the mitochondria & the

cytoplasm?


1001

gluconeogenesis (hepatocytes); urea cycle; heme


1002

Q0502:What is S-adenosyl-methionine (aka SAM)?


1003

ATP + methionine; transfers methyl units; relies on B12.


1004

Q0503:What is NADPH?


1005

electron acceptor used in anabolic processes (eg steroid

synthesis); respiratory burst; & P-450; comes from the TPP

shunt.


1006

Q0504:What is chronic granulomatous disease?


1007

deficit of NADPH oxidase (makes bleach out of O2);

neutrophils can't kill bugs


1008

Q0505:What blood problem is commonly assoc. w/a

glycolytic enzyme deficiency?


1009

hemolytic anemia b/c RBC's rely on glycolysis for energy.


1010

Q0506:What is the pyruvate dehydrogenous complex?


1011

the enzyme + vitamins B1;2;3;5; + lipoic acid; makes

pyruvate into acetyl-CoA; activated by excercise.


1012

Q0507:What happens when you have a pyruvate

dehydrogenase deficiency?


1013

lactic acidosis; neurologic defects; tx w/ketogenic nutrients.


1014

Q0508:How many ATP does 1 NADH make per turn?


1015

3


1016

Q0509:How many ATP does 1 FADH2 make per turn?


1017

2


1018

Q0510:Name 8 ox-phos poisons.


1019

rotenone; CN-; antimysin A; CO (e- transport inhibitors);

oligomycin (ATPase inhibitor); UCP; 2;4-DNP; aspirin

(uncouplers).


1020

Q0511:What happens when you have a glucose-6-P

deficiency?


1021

cannot generate G6PD that is required to reduce glutathionine

that detoxifies the free rads & peroxides; RBC's are especially

susceptible to oxidizing agents & will form hemoglobin

precipitates (Heinz bodies); Blacks; X-linked recessive.


1022

Q0512:What happens when you have an aldolase B

deficiency?


1023

recessive; fructose accumulation; inhibition of glycogenolysis

& gluconeogenesis; hypoglycemia; jaundice; cirrhosis;

vomiting.


1024

Q0513:What is essential fructosuria?


1025

deficient fructokinase; benign.


1026

Q0514:What is galactosemia?


1027

autosomal recessive; absence of galactose-1-P

uridyltransferase; accumulation of toxins (eg galactitol);

cataracts ; hepatosplenomegaly; mental retardation


1028

Q0515:Name the essential aminoacids;Hint: PriVaTe TIM

HALL.


1029

phe; val; thr; trp; ile; met; his; arg; leu; lys


1030

Q0516:What is hyperammonemia?


1031

can be acquired (eg liver damage) or hereditary (eg ornithine

transcarbamoylase def); excess NH4+ -> inhibition of Kreb's

cycle; tremor; slurring; vomiting; cerebral edema; blurred

vision; somnolence.


1032

Q0517:Why do we need insulin?


1033

allows entrance of glucose into adipose & muscle cells.


1034

Q0518:What does insulin inhibit?


1035

glucagon release by alpha pancreas cells.


1036

Q0519:What does insulin do?


1037

increases: glucose transport; glycogen synthesis/storage; TG

synthesis/storage;Na+ retention; protein synthesis (muscles).


1038

Q0520:What cells don't require glucose? Hint: BRICK L


1039

brain; RBCs; intestine; cornea; kidney; liver.


1040

Q0521:What role does adrenaline (aka epinephrine) play in

glycogenensis & glycogenolysis?


1041

glycogenesis = (-);glycogenolysis = (+)for both muscle & liver

glycogen stores.


1042

Q0522:What's the difference in glycogen response for muscle

vs liver?


1043

muscle metabolizes glucose fast; the liver acts to maintain

blood sugar levels.


1044

Q0523:How do you synthesize fat?


1045

acetyl-CoA (mitochondria)-> citrate shuttle (matrix)-> acetyl-

CoA + biotin (cytoplasm)-> malonyl CoA-> FA


1046

Q0524:How do you burn fat?


1047

FA + CoA-> acyl-CoA (cytoplasm)-> carnitine shuttle

(matrix)-> acyl-CoA which is beta-oxidized into acetyl-CoA

groups.


1048

Q0525:What are ketone bodies?


1049

FA + aminoacids in the liver -> acetoacetate + beta-

hydroxybutyrate. these products can be used in leiu of

glucose during fasting & diabetes for the brain & muscle;

fruity breath.


1050

Q0526:How do you make cholesterol?


1051

HMG-CoA reductase is the rate limiting step; converts

HMG-CoA to mevalonate; most cholesterol gets esterfied by

LCAT.


1052

Q0527:What drug inhibits cholesterol synthesis?


1053

lovestatin inhibits HMG-CoA reductase.


1054

Q0528:What are the essential fatty acids?


1055

linoeic & linolenic acid. eicosanoids rely on these babies!


1056

Q0529:What does pancreatic lipase do?


1057

degrades TG in small intestine.


1058

Q0530:What does lipoprotein lipase do?


1059

degrades TG in chylomicrons & VLDLs.


1060

Q0531:What does hepatic TG lipase do?


1061

degrades TG in IDL.


1062

Q0532:What does hormone sensitive lipase do?


1063

degrades TG in adipocytes.


1064

Q0533:What does LCAT do?


1065

esterfies cholesterol.


1066

Q0534:What does CEPT do?


1067

transfers cholesterol esters to other lipoproteins.


1068

Q0535:What does A1 do?


1069

activates LCAT.


1070

Q0536:What does B-100 do?


1071

binds to LDL receptor & mediates VLDL secretion.


1072

Q0537:What does CII do?


1073

it's a cofactor for lipoprotein lipase.


1074

Q0538:What does B-48 do?


1075

mediates chylomicron secretion.


1076

Q0539:What does E do?


1077

mediates extra remnant uptake.


1078

Q0540:What are lipopriteins made of?


1079

cholesterol; TG; phospholipids.


1080

Q0541:What do chylomicrons do?


1081

takes TG from intestine to peripheral tissues & cholesterol to

liver.


1082

Q0542:Which lipoproteins do chylomicrons need?


1083

B-48; A;C;E.


1084

Q0543:What does VLDL do?


1085

takes liver TGs to peripheral tissues.


1086

Q0544:Which lipoproteins do VLDLs need?


1087

B-100; C-II; E


1088

Q0545:What does IDL do?


1089

comes from VLDL degradation. takes TGs & cholesterol to

liver to process into LDL.


1090

Q0546:What lipoproteins does IDL need?


1091

B-100; E.


1092

Q0547:What does LDL do?


1093

takes liver cholesterol to peripheral tissues; formed from

VLDL via lipoprotein lipase in peripheral tissue.


1094

Q0548:What lipoproteins does LDL need?


1095

B-100.


1096

Q0549:What does HDL do?


1097

takes peripheral cholesterol to liver; also a storage for apoC &

apoE for chylomicron & VLDL metabolism; secreted by liver

& intestine.


1098

Q0550:How is heme broken down?


1099

heme-> biliverdin-> bilirubin -> liver -> bile.


1100

Q0551:What is heme made of?


1101

2 alpha + 2 beta polypetide subunits.


1102

Q0552:Explain R vs T forms of heme.


1103

T = low O2 affinity; R= high O2 affinity. T unloads!


1104

Q0553:What favors T form over R form heme?


1105

increased: Cl-; H+; CO2; 2;3-BPG; temperature favor O2

unloading; shifts curve right.


1106

Q0554:What happens to CO2?


1107

travels as bicarbonate in blood to lungs; binds to globin (not

heme); favors T form of heme.


1108

Q0555:What is methemoglobin?


1109

this is oxidized hemoglobin (Fe3+) that prefers CN- over O2;

push nitrates!


1110

Q0556:What is carboxyhemoglobin?


1111

hemoglobin has a fettish for CO.


1112

Q0557:What are the four irreversible enzymes in glycolysis?


1113

1. hexokinase/glucokinase;2. phosphofructokinase-1;3.

pyruvate kinase;4. pyruvate dehydrogenase


1114

Q0558:What is the rate-limiting step in glycolysis?


1115

Conversion of Fructose-6-phosphate into Fructose-1;6 BP via

phosphofructokinase 1


1116

Q0559:What factor negatively inhibits hexokinase in

glycolysis?


1117

Glucose-6-Phosphate


1118

Q0560:What factors (2) negatively inhibit PFK-1 in

glycolysis?


1119

1. ATP;2. citrate


1120

Q0561:What factors (2) positivcely affect PFK-1 in

glycolysis?


1121

1. AMP;2. fructose-2;6-BP


1122

Q0562:What factors (2) NEGATIVELY inhibit pyruvate

kinase in glycolysis?


1123

1. ATP;2. alanine


1124

Q0563:What factor positively affects pyruvate kinase in

glycolysis?


1125

fructose-1;6 BP


1126

Q0564:What factors (3) negatively inhibit pyruvate

dehydrogenase in glycolysis?


1127

1. ATP;2. NADH;3. acetyl-Coa


1128

Q0565:What enzymes (2) CONVERT D-glucose into

Glucose-6-phosphate in glycolysis?


1129

1. hexokinase;2. gLucokinase (liver only)


1130

Q0566:What enzyme CONVERTS PEP into pyruvate?


1131

pyruvate kinase


1132

Q0567:What enzyme CONVERTS pyruvate into Acetyl-

CoA


1133

pyruvate dehydrogenase


1134

Q0568:What enzyme converts Fructose-6-P into Fructose-

1;6-BP?


1135

Phosphofructokinase (rate-limiting step)


1136

Q0569:What glycolytic enzyme deficiencies result in

hemolytic anemia? (7)


1137

1. hexokinase;2. glucose phosphate isomerase;3. aldolase;4.

triosephosphate isomerase;5. phosphate glycerate kinase;6.

enolase;7. pyruvate kinase


1138

Q0570:Do RBCs possess mitochondria?


1139

no: metabolize glucose anaerobically and thus depend solely

on glycolysis


1140

Q0571:Order of enzymes in a phagolysosome that destroy

bacteria in oxygen-dependent respiratory burst?


1141

1. NADPH OXIDASE;2. SOD;3. MYELOPEROXIDASE


1142

Q0572:What enzyme converts O2 into its free radical?


1143

NADPH OXIDASE; using NADPH


1144

Q0573:What enzyme converts an O2 free radical into H2O2?


1145

SOD


1146

Q0574:What enzyme converts H2O2 into HOCl free radical


1147

myeloperoxidase; using a chloride anion


1148

Q0575:What enzyme converts GSH into GSSG?


1149

catalase; via oxidation using H2O2


1150

Q0576:What enzyme converts NADPH into NADP+ using

GSSG?


1151

glutathione reductase; resulting in GSH and NADP+


1152

Q0577:What enzyme restores NADPH by converting G6P

into 6-phosphogluconolactone?


1153

Glucose-6-phosphate dehydrogenase


1154

Q0578:A deficiency in what enzyme can cause chronic

granulomatous disease?


1155

NADPH OXIDASE DEFICIENCY --> CGD


1156

Q0579:How many enzymes does the Pyruvate

Dehydrogenase Complex contain?


1157

3 enzymes


1158

Q0580:What are the 5 co-factors for the Pyruvate

Dehydrogenase Complex?


1159

1. Pyrophosphate;2. FAD;3. NAD;4. CoA;5. Lipoic

acid;(First 4 B vitamins plus lipoic acid)


1160

Q0581:From what is PyroPhosphate derived in the PDH

complex?


1161

1. Vitamin B1 (thiamine);2. TPP


1162

Q0582:From what is FAD derived in the PDH complex?


1163

Vitamin B2 (riboflavin)


1164

Q0583:From what is NAD derived in the PDH complex?


1165

Vitamin B3 (niacin)


1166

Q0584:From what is CoA derived in the PDH complex?


1167

Vitamin B5 (pantothenate)


1168

Q0585:What is the overall reaction in the PDH complex?


1169

pyruvate + NAD+ + CoA --> acetyl-CoA + CO2 + NADH


1170

Q0586:What three factors activate PDH during exercise?


1171

1. increase in NAD+/NADH ratio;2. increase in ADP ratio;3.

increase in Ca2+


1172

Q0587:PDH complex is similar to what other complex by

having the same cofactors; similar substrate; and similar

action?


1173

PDH is similar to alpha-KG DH complex


1174

Q0588:What enzyme deficiency cause cause lactic acidosis?


1175

PDH complex deficiency from a backup of pyruvate and

alanine


1176

Q0589:Alcoholism with a Vitamin B1 deficiency can also

cause what (besides Wernicke-Korsakoffe)?


1177

PDH deficiency (B1 is a co-factor)


1178

Q0590:What are the findings in PDH complex deficiency?


1179

neurologic deficits


1180

Q0591:What is the treatment for PDH complex deficiency?


1181

1. increase intake of KETOGENIC nutrients (high fat

content);2. increase intake of LEUCINE and LYSINE


1182

Q0592:What four items can pyruvate be converted into?


1183

1. alanine;2. oxaloacetate;3. acetyl-Coa;4. lactate


1184

Q0593:How can OAA be used after it is converted from

pyruvate?


1185

1. replenish TCA cycle;2. gluconeogenesis


1186

Q0594:What enzyme converts pyruvate into alanine?


1187

ALT


1188

Q0595:What enzyme converts pyruvate into OAA?


1189

pyruvate carboxylase (using CO2 + ATP)


1190

Q0596:What enzyme converts pyruvate into Acetyl-CoA?


1191

PDH (using NAD+ and releasing CO2)


1192

Q0597:What enzyme converts pyruvate into lactate in the

cytosol?


1193

LDH (using NADH)


1194

Q0598:What is the purpose of the Cori cycle?


1195

Cori cycle transfers excess reducing equivalents from RBCs

and muscle --> liver; allowing muscle to function

anaerobically.


1196

Q0599:In the TCA cycle; what are the products per one

acetyl CoA?


1197

1. 3 NADH;2. 1 FADH2;3. 2 CO2;4. 1 GTP


1198

Q0600:How many ATP are produced from a single acetyl-

Coa in the TCA cycle?


1199

12 ATP/acetyl-Coa in the TCA cycle


1200

Q0601:How many ATP are produced from a single glucose

molecule in the TCA cycle?


1201

24 ATP


1202

Q0602:In the TCA cycle; what are the products per one

glucose molecule?


1203

1. 6 NADH;2. 2 FADH2;3. 4 CO2;4. 2 GTP


1204

Q0603:What enzyme converts pyruvate into Acetyl-Coa?


1205

PDH in glycolysis


1206

Q0604:What three factors inhibit PDH?


1207

1. ATP;2. Acetyl-Coa;3. NADH


1208

Q0605:What factor inhibits Citrate synthase?


1209

ATP


1210

Q0606:wWhat enzyme converts Acetyl-CoA + OAA -->

citrate?


1211

citrate synthase in the TCA cycle


1212

Q0607:What enzyme converts Isocitrate into alpha-KG?


1213

Isocitrate dehydrogenase


1214

Q0608:What 2 factors negatively inhibit Isocitrate DH?


1215

1. ATP;2. NADH


1216

Q0609:What factor positively affects Isocitrate DH?


1217

ADP


1218

Q0610:What two molecules are released in the conversion of

Isocitrate into alpha-KG?


1219

1. CO2;2. NADH


1220

Q0611:what enzyme converts alpha-KG into Succinyl-CoA


1221

alpha-KG DH


1222

Q0612:What two molecules are released in the conversion of

alpha-KG into Succinyl CoA?


1223

1. CO2;2. NADH


1224

Q0613:What 3 factors negatively inhibit alpha-KG?


1225

1. Succinyl-CoA;2. NADH;3. ATP


1226

Q0614:What 2 molecules are released in the conversion of

Succinyl-CoA --> Succinate?


1227

1. GTP;2. CoA


1228

Q0615:What molecule is released in the conversion of

Succinate --> Fumarate?


1229

FADH2


1230

Q0616:What molecule is released in the conversion of malate

into OAA?


1231

NADH


1232

Q0617:1 NADH yields how many ATP?


1233

3 ATP per 1 NADH


1234

Q0618:1 FADH2 yields how many ATP?


1235

2 ATP per 1 FADH2


1236

Q0619:Name 4 electron transport inhibitors:


1237

1. rotenone;2. antimycin A;3. CN-;4. CO


1238

Q0620:What is the end result of electron transport inhibition?


1239

1. decrease in proton gradient;2. block of ATP synthesis


1240

Q0621:What is an example of a mitochondrial ATPase

inhibitor?


1241

Oligomycin


1242

Q0622:The enzymes for gluconeogenesis are located in what

organs only?


1243

1. liver;2. kidney;3. intestinal epithelium


1244

Q0623:Can muscle participate in gluconeogenesis?


1245

NO


1246

Q0624:The pentose phosphate pathway (HMP Shunt)

produces [;] from G6P for nucleotide synthesis


1247

ribose-5-P


1248

Q0625:The Pentose Phosphate Pathway (HMP Shunt)

produces [;] from [;] for FA and steroid biosynthesis and for

maintaining reduced glutathione inside RBCs.


1249

NADPH from NADP+


1250

Q0626:All rxns in the HMP Shunt ocur in the [;].


1251

cytoplasm


1252

Q0627:[;] ATP is used or produced in the HMP Shunt.


1253

NO


1254

Q0628:What are the organs involved in the HMP Shunt

(Pentose Phosphate Pathway)?


1255

1. lactating mammary glands;2. liver;3. adrenal cortex;4. all

sites of FA or steroid synthesis


1256

Q0629:[;] is the rate-limiting enzyme in the HMP shunt


1257

G6PD


1258

Q0630:Hemolytic anemia is caused by a decrease in [;] in

RBCs due to poor RBC defense against oxidizing agents.


1259

NADPH


1260

Q0631:What are the oxidizing agents involved in hemolytic

anemia due to a G6PD deficiency?


1261

1. fava beans;2. sulfonamide;3. primaquine;4. Anti-TB drugs


1262

Q0632:What are Heinz bodies?


1263

altered H.emoglobin precipitates within RBCs


1264

Q0633:What is the inheritance pattern of G6PDH deficiency?


1265

X-linked recessive


1266

Q0634:Glucose-6-Phosphate DH converts G6P and NADP+

into what?


1267

1. 6-PG;2. NADPH


1268

Q0635:Glutathion reductase converts NADPH and oxidized

GS-SG into what?


1269

1. NADP+;2. 2 GSH (reduced)


1270

Q0636:Hydrogen peroxide reacts with what to produc GS-SG

(oxidized) + 2 H2O?


1271

2 GSH (reduced)


1272

Q0637:What enzyme is associated with Essential fructosuria?


1273

Fructokinase


1274

Q0638:What enzyme is associated with Fructose intolerance?


1275

Aldolase B


1276

Q0639:What is the end result of Fructose intolerance?


1277

1. Fructose-1-phosphate accumulates;2. DECREASE in

available phosphate;3. INHIBITION of

GLYCOGENOLYSIS and GLUCONEOGENSIS


1278

Q0640:What are the symptoms of hereditary aldolase B

deficiency (Fructose intolerance)?


1279

1. hypoglycemia;2. jaundice;3. cirrhosis;4. vomiting


1280

Q0641:What is the treatment for Fructose intolerance?


1281

1. DECREASE intake of fructose;2. DECREASE intake of

sucrose (glucose + FRUCTOSE)


1282

Q0642:Aldolase B converts Fructose-1-P into what 2

products?


1283

1. DHAP;2. glyceraldehyde


1284

Q0643:What enzyme converts Glyceraldehyde into

Glyceraldehyde-3-P?


1285

Triose kinase


1286

Q0644:What enzyme converts Galactose-1-P to Glucose-1-P?


1287

Galactose-1-phosphate uridyltransferase


1288

Q0645:Galactosemia is caused by the absence of what

enzyme?


1289

Galactose-1-phosphate uridyl transferase


1290

Q0646:What are the symptoms of galactosemia?


1291

1. cataracts;2. hepatosplenomegaly;3. mental retardation


1292

Q0647:What is the treatment of galactolsemia?


1293

1. EXCLUDE galactose;2. EXCLUDE LACTOSE (galactose

+ glucose) from diet


1294

Q0648:What causes the symptoms of galactosemia?


1295

accumulation of toxic substances (galactitol)


1296

Q0649:What enzyme converts UDP-galactose back into

UDP-glucose?


1297

4-epimerase


1298

Q0650:What is the mnemonic for all essential amino acids?


1299

P.riV.aT.e T.I.M. H.A.L.L.


1300

Q0651:What are the glucogenic/ketogenic essential amino

acids?


1301

1. P.henylalanine;2. I.le;3. T.ryptophan;"Gluco/ketogenic is

the P.I.T.s"


1302

Q0652:What are the Glucogenic essential amino acids?


1303

1. M.ethionine;2. T.hreonine;3. V.aline;4. A.rginine;5.

H.istidine;"MTV? AH!"


1304

Q0653:What essential amino acids are required during growth?


1305

1. Arginine;2. Histidine;both increase GH


1306

Q0654:What basic amino acid has no net charge at body pH?


1307

Histidine


1308

Q0655:What is the most basic AA?


1309

Arginine


1310

Q0656:What 2 amino acids are found in histones?


1311

1. Arginine;2. Lysine;(both have an extra NH3 group)


1312

Q0657:What is formed in the conversion of glutamate -->

alpha-KG?


1313

NADPH


1314

Q0658:The Urea Cycle degrades [;] into amino groups.


1315

amino acids


1316

Q0659:What accounts for 90% of nitrogen in the urine?


1317

Urea Cycle


1318

Q0660:In what organ does the Urea Cycle occur?


1319

liver


1320

Q0661:In what organelle does carbamoyl phosphate

incorporation occur?


1321

mitochondria


1322

Q0662:Where do the remaining steps of the Urea Cycle occur;

besides the mitochondria?


1323

cytosol


1324

Q0663:What is released in the conversion of Arginine -->

Ornithine?


1325

Urea


1326

Q0664:Tryptophan is used to form what 3 things?


1327

1. Niacin;2. Serotonin;3. Melatonin


1328

Q0665:Glycine is used to form what?


1329

glycine --> porphyrin --> heme


1330

Q0666:Arginine is used to form what?


1331

1. Creatine;2. Urea;3. Nitric oxide


1332

Q0667:In PKU; what constituents(2) are deficient?


1333

1. phenylalanine hydroxylase;2. tetrahydrobiopterin cofactor


1334

Q0668:What are the findings (5) in PKU?


1335

1. MR;2. growth retardation;3. fair skin;4. eczema;5. musty

body odor


1336

Q0669:What is the R(x) for PKU?


1337

1. DECREASE Phe;2. INCREASE Tyr in diet


1338

Q0670:What are the 3 phenyllactones that accumulate in

PKU?


1339

1. phenylacetate;2. phenyllactate;3. phenylpyruvate


1340

Q0671:What is the incidence of PKU?


1341

1/10;000


1342

Q0672:What enzyme converts Phe --> Tyr?


1343

Phenylalanine hydroxylase


1344

Q0673:What enzyme converts DHB --> THB and restores

NADP+?


1345

dihydropterin reductase


1346

Q0674:What are the 2 possible causes of albinism?


1347

1. deficiency of TYROSINASE (inability to synthesize

malanin from tyrosine);2. Defective tyrosine transporters

(DECREASE amounts of tyrosine and thus melanin)


1348

Q0675:[;] can result from a lack of migration of neural crest

cells


1349

Albinism


1350

Q0676:Full-term neonate of uneventful delivery becomes

mentally retarded and hyperactive and has a musty odor.

What is the D(x)?


1351

PKU


1352

Q0677:Stressed executive comes home from work; consumes

7 or 8 martinis in rapid succession before dinner; and becomes

hypoglycemic. What is the mechanism?


1353

NADH increase prevents gluconeogenesis by shunting

pyruvate and OAA to lactate and malate.


1354

Q0678:2-year-old girl has an increase in abdominal girth;

failure to thrive; and skin and hair depigmentation. What is the

D(x)?


1355

Kwashiorkor


1356

Q0679:Alcoholic develops a rash; diarrhea; and altered mental

status. What is the vitamin deficiency?


1357

Vitamin B3 (pellagra)


1358

Q0680:51-year-old man has black spots in his sclera and has

noted that his urine turns black uon standing. What is the

D(x)?


1359

Akaptonuria


1360

Q0681:25-year-old male complains of severe chest pain and

has xanthomas of his Achilles tendon. What is the disease; and

where is the defect?


1361

Familial hypercholesterolemia; LDL receptor.


1362

Q0682:What is the definition of UNAMBIGUOUS when

describing the genetic code?


1363

each codon specifies only 1 AA


1364

Q0683:What is the definition of Degenerate when describing

the genetic code?


1365

more than 1 codon may code for the same AA


1366

Q0684:Why organism does NOT have a commaless;

nonoverlapping genetic code?


1367

viruses


1368

Q0685:What are the EXCEPTIONS to a universal genetic

code?


1369

1. mitochondria;2. archaeobacteria;3. Mycoplasma;4. yeasts

(some)


1370

Q0686:[;] makes an RNA primer on which DNA polymerase

III can initiate replication in PROKARYOTIC DNA

replication.


1371

Primase


1372

Q0687:[;] degrades the RNA primer in PROKARYOTIC

DNA replication.


1373

DNA polymerase I


1374

Q0688:DNA polymerase III has [;] synthesis and proofreads

with [;] exonuclease


1375

5'--> 3' synthesis; 3' --> 5' exonuclease (DNA polymerase III

for PROKARYOTES)


1376

Q0689:In PROKARYOTIC DNA replication; DNA

polymerase I excises the RNA primer with a [;] exonuclease


1377

5' --> 3'


1378

Q0690:Where does replication begin for Eurkaryotic DNA

polymerases?


1379

consensus sequences of AT base pairs.


1380

Q0691:What is the function of Eukaryotic DNA polymerase

alpha?


1381

synthesize RNA PRIMERS


1382


beta?


1383

LEADING-strand DNA


1384


gamma?


1385

LAGGING-strand DNA


1386


delta?


1387

MITOCHONDRIAL DNA


1388


epsilon?


1389

DNA repair


1390

Q0696:X-rays can damage DNA; and a repair defect can cause

what?


1391

ataxia-telangiectasia


1392

Q0697:Radiation can damage DNA; and a repair defect can

cause what?


1393

Bloom's syndrome


1394

Q0698:Cross-linking agents can damage DNA; and a repair

defect can cause what?


1395

Fanconi's anemia


1396

Q0699:DNA; RNA; and protein are all synthesized in what

direction?


1397

5' --> 3'


1398

Q0700:AA's are linked [;] to [;]


1399

N --> C


1400

Q0701:What are the types of RNA polymerases for

EUKARYOTES?


1401

1. RNA POLYMERASE I;2. RNA POLYMERASE II;3.

RNA POLYMERASE III


1402

Q0702:Do RNA polymerases have proofreading function?


1403

NO


1404

Q0703:Alpha-amantin inhibits which RNA polymerase?


1405

RNA polymerase II


1406

Q0704:Where does RNA polymerase II bind?


1407

promotor site of DNA


1408

Q0705:In Prokaryotes; does RNA polymerase make all 3

kinds of RNA?


1409

yes


1410

Q0706:What binds to a PROMOTOR site?


1411

1. RNA polymerase;2. transcription factors;(UPSTREAM

FROM THE GENE)


1412

Q0707:What binds to an ENHANCER site?


1413

transcription factors


1414

Q0708:What binds to an OPERATOR?


1415

repressors (a repressive operator)


1416

Q0709:Only [;] RNA is transported out of the nucleus


1417

processed


1418

Q0710:The [;] the Km; the higher the affinity.


1419

lower


1420

Q0711:The S phase of the cell cycle involves what?


1421

Synthesis of DNA


1422

Q0712:The G0 phase in the cell cycle is a quiescent [;] phase


1423

G1 phase


1424

Q0713:In the cell cycle; [;] is the shortest phase


1425

mitosis


1426

Q0714:Most cells are in what phase?


1427

Go


1428

Q0715:RER does what 2 things?f


1429

1. synthesis of secretory (exported) proteins;2. N-linked

oligosaccharide addition to many proteins


1430

Q0716:What are the major functions of the Golgi?


1431

1. MODIFIES N-oligosaccharides on asparagiNe;2. ADDS O-

oligosaccharides to serine and threOnine;3. sulfation of sugars

on proteoglycans;4. sulfation of Tyrosine;5. ADDITION of

mannose-6-phosphate to lysosomal proteins; which targets

the protein to the lysosome.


1432

Q0717:What are the symptoms of I-cell disease?


1433

1. coarse facial features;2. restricted joint movement


1434

Q0718:What are the 3 key features of microtubules?


1435

1. helical;2. alpha + beta tubulin dimers (2 GTP bound

each);3. forms flagella; cilia; and mitotic spindles


1436

Q0719:What are 5 drugs that act on microtubules?


1437

1. Mebendazole/thiabendazole;2. Taxol;3. Griseofulvin;4.

Vincristine/vinblastine;5. Colchicine


1438

Q0720:Chediak-Higashi syndrome is due to a microtubule

polymerization defect; resulting in a DECREASE in [;]


1439

phagocytosis


1440

Q0721:What are the 2 key features of Cilia?


1441

1. 9 + 2 arrangment of microtubules (9 doublets);2. doublets

linked by Dynein; an ATPase


1442

Q0722:Kartagener's syndrome is due to a dynein arm defect;

resulting in [;] cilia.


1443

immotile cilia


1444

Q0723:What 2 components in the plasma cell membrane can

INCREASE the melting temperature?


1445

1. cholestrol;2. long saturated fatty acids


1446

Q0724:Name 5 functions of Phosphatidylcholine:


1447

1. RBCs;2. myelin;3. bile;4. surfactant (DiPalmitoyl

Phosphatidyl Choline);5. esterification of cholesterol (LCAT)


1448

Q0725:Ouabain INHIBITS the Na+/K+ pump by binding to

what?


1449

K+ site


1450

Q0726:What is the most abundant protein in the human

body?


1451

collagen


1452

Q0727:What are the components of Type I collagen?


1453

1. B.one;2. tendon;3. skin;4. dentin;5. fascia;6. cornea;7. late-

wound repair


1454

Q0728:What are the components of Type II collagen?


1455

1. C.artilage ("Type II: carTWOlage"); hyaline too;2. vitreous

body;3. nucleus pulposus


1456

Q0729:What are the components of Type III collagen?


1457

1. R.eticulin;2. skin;3. blood vessels;4. uterus;5. fetal tissue;6.

granulation tissue


1458

Q0730:What are the components of Type IV collagen?


1459

1. B.asement membrane;2. basal lamina "Type IV: under the

FLOOR (basement membrane)"


1460

Q0731:What is the component of Type X collagen


1461

epiphyseal plate


1462

Q0732:What is the mnemonic for the first four collagen types

(I-IV)?


1463

"B.e C.ool; R.ead B.ooks"


1464

Q0733:What is the 1st step in collagen synthesis INSIDE

fibroblasts?


1465

collagen alpha chains (PREPROCOLLAGEN) translated on

RER--usually Gly-X-Y polypeptide (X and Y are proline;

hydroxyproline; or hydroxylysine)


1466

Q0734:What is the 2nd step in collagen synthesis INSIDE

fibroblasts?


1467

ER--> hydroxylation of specific proline and lysine residues

(requires vitamin C)


1468

Q0735:What is the 3rd step in collagen synthesis INSIDE

fibroblasts?


1469

Golgi --> glycosylation of pro-alpha-chain lysine residues and

formation of PROCOLLAGEN(triple helix of 3 collagen alpha

chains)


1470

Q0736:What is the 4th step in collagen synthesis INSIDE

fibroblasts?


1471

PROCOLLAGEN molecules are exocytosed into the

extracellular space


1472

Q0737:What is the 5th step in collagen synthesis OUTSIDE

fibroblasts?


1473

PROCOLLAGEN peptidases cleave terminal regionals of

PROCOLLAGEN; transforming PROCOLLAGEN into

insoluble TROPOCOLLAGEN


1474

Q0738:What is the 6th and last step in colagen synthesis

OUTSIDE fibroblasts?


1475

staggered TROPOCOLLAGEN molecules are reinforced by

covalent lysine-hydroxylysine cross-linkage (by lysyl

oxidase) to make COLLAGEN FIBRILS


1476

Q0739:What are the 8 major points concerning Ehlers-Danlos

syndrome?


1477

1. faulty collagen synthesis;2. hyper-extensible skin;3. easy

bleeding/brusing;4. hypermobile joints;5. berry aneurysms;6.

type III collagen (reticulin: blood vessels; skin);7. mitral valve

prolapse;8. CAN'T make COLLAGEN FIBRILS from

TROPOCOLLAGEN!


1478

Q0740:What are the 9 major points concerning

OSTEOGENESIS IMPERFECTA?


1479

1. AUTOSOMAL DOMINANT (UNIQUE);2. faulty

collagen synthesis;3. brittle bone disease;4. translucency of

CT over choroid (blue sclerae);5. hearing loss: abnormal

middle ear bones;6. lack of dentition;7. Type II OI: fatal;8.

Indicence of OI: 1/10;000;9. CAN'T make PROCOLLAGEN

from PREPROCOLLAGEN


1480

Q0741:What three metabolic processes occur in the

mitochondria?


1481

1. B.eta-oxidation;2. A.cetyl-CoA production;3. K.rebs cycle


1482

Q0742:What five metabolic processes occur in the

cytoplasm?


1483

1. glycolysis;2. FA synthesis;3. protein synthesis;4. steroid

synthesis;5. HMP shunt


1484

Q0743:What 2 metabolic processes occur in BOTH the

mitochondria and cytoplasm?


1485

1. H.eme synthesis;2. U.rea cycle;3.

G.luconeogenesis;"H.U.G. both the mitochondria and

cytoplasm for their metabolism."


1486

Q0744:A deficiency of what enzyme causes MILD

galactosemia?


1487

Galactokinase


1488

Q0745:A deficiency of what enzyme causes SEVERE

galactosemia?


1489



1490

Q0746:Galactose-1-phosphate --> Glucose-1-phosphate by

what enzyme?


1491



1492

Q0747:A deficiency of what enzyme causes Von Gierke's

disease?


1493

Glucose-6-phosphatase


1494

Q0748:Glucose-6-phosphate --> 6-phosphogluconolactone

by what enzyme?


1495

Glucose-6-phosphate dehydrogenase (G6PD)


1496

Q0749:Hemolytic anemia is caused by a deficiency of what

enzyme?


1497

G6PD


1498

Q0750:Ribulose-5-phosphate --> fructose-6-phosphate by

what enzyme?


1499

transketolase


1500

Q0751:A deficiency of what enzyme causes ESSENTIAL

fructosuria?


1501

fructokinase


1502

Q0752:A deficiency of what enzyme causes fructose

INTOLERANCE?


1503

Aldolase B


1504

Q0753:F1P --> DHAP + Glyceraldehyde. What enzyme?


1505

aldolase B


1506

Q0754:PEP --> pyruvate. What enzyme?


1507

pyruvate kinase


1508

Q0755:Pyruvate --> Acetyl-CoA. What enzyme?


1509

pyruvate dehydrogenase


1510

Q0756:Acetyl-CoA --> Malonyl-CoA. What cofactor?


1511

biotin to tranfer CO2


1512

Q0757:HMG CoA --> mevalonate. What enzyme?


1513

HMG-CoA reductase


1514

Q0758:pyruvate --> OAA. What enzyme?


1515

pyruvate carboxylase


1516

Q0759:OAA --> PEP. What enzyme?


1517

PEP carboxykinase


1518

Q0760:Acetyl-CoA + OAA --> citrate. What enzyme?


1519

citrate synthase


1520

Q0761:alpha-KG --> Succinyl-CoA. What enzyme?


1521

alpha-ketoglutarate dehydrogenase


1522

Q0762:Ornithine + Carbamoyl phosphate --> citrulline. What

enzyme?


1523

ornithine transcarbamylase


1524

Q0763:Aerobic metabolism of glucose --> 38 ATP via [;]


1525

malate shuttle


1526

Q0764:Aerobic metabolism of glucose --> 36 ATP via [;]


1527

G3P shuttle


1528

Q0765:What are 2 activated ACYL carriers?


1529

1. coenzyme A;2. lipoamide


1530

Q0766:What is an activated CO2 carrier?


1531

biotin


1532

Q0767:What is an activated 1-carbon unit carrier?


1533

tetrahydrofolate


1534

Q0768:What is an activated carrier of aldehydes?


1535

TPP


1536

Q0769:What is an activated carrier of choline?


1537

CDP-choline


1538

Q0770:ATP + methionine --> SAM. using what cofactor?


1539

B12


1540

Q0771:NADPH used in 3 processes:


1541

1. anabolic processes;2. respiratory burst;3. p-450


1542

Q0772:What enzymes involve NADPH in respiratory burst?


1543

1. NADPH oxidase;2. glutathione reductase;3. Glucose-6-

Phosphate dehydrogenase


1544

Q0773:Glucose -> G6P; an irreversible regulatory step in

glycolysis is catalyzed by which enyzme?


1545

glucokinase/hexokinase


1546

Q0774:Fructose 6-phosphate -> F1;6BP; an irreversible

regulatory step in glycolysis is catalyzed by which enyzme?


1547

Phosphofructokinase (PFK)


1548

Q0775:Phosphoenolpyruvate (PEP)->pyruvate; an

irreversible regulatory step in glycolysis is catalyzed by

which enyzme?


1549

pyruvate kinase


1550

Q0776:Acetyl CoA --> Citrate; an irreversible regulatory step

in the TCA cycle is catalyzed by which enyzme?


1551

citrate synthase


1552

Q0777:a-ketoglutarate -> succinate; an irreversible regulatory

step in the TCA cycle is catalyzed by which enyzme?


1553

a-ketoglutarate dehydrogenase


1554

Q0778:How many ATP are produced from one glucose

molecule in anaerobic glycolysis?


1555

2 ATP produced


1556

Q0779:How many ATP are produced from one glucose

molecule in aerobic metabolism?


1557

38ATP from malate shuttle;36 ATP from Glucose 3

phosphate shuttle


1558

Q0780:What is the product of the hexose monophospate

shunt (HMP)?


1559

NADPH used in anabolic processes (steroid and fatty acid

synthesis) and ribose 5-phosphate for nucleotide synthesis


1560

Q0781:What molecules are universal electron acceptors?


1561

Nicotinamides (NAD; NADP);Flavin nucleotides (FAD)


1562

Q0782:Where is hexokinase found?


1563

ubiquitous


1564

Q0783:What are the kinetic characteristics of hexokinase in

relation to glucose?


1565

high affinity; low capacity


1566

Q0784:What product inhibits hexokinase?


1567

Glucose 6-Phosphate


1568

Q0785:Where does one find glucokinase?


1569

in the liver


1570

Q0786:What are the kinetic characteristics of glucokinase in

relation to glucose?


1571

low affinity; high capacity


1572

Q0787:Where does glycolysis occur in the cell?


1573

Cytoplasm


1574

Q0788:Which enzyme is activated in the fasting state

converting fructose-6-phosphate to fructose 2;6-

bisphosphate?


1575

PFK2


1576

Q0789:Which enzyme is activated in the fed state converting

fructose-2;6-bisphosphatase to fructose 6-phosphatate?


1577

fructose bisphosphatate-2


1578

Q0790:What molecule is the most potent activator of

phosphofructokinase; converting fructose-6-phosphate to

fructose 1;6-phosphate


1579

Fructose 2;6 BP


1580

Q0791:A deficiency of which glycolytic enzyme is associated

with hemolytic anemia?


1581

pyruvate kinase;G6PDH is not part of glycolysis; it is part of

the HMP shunt


1582

Q0792:What are the only two purely ketogenic amino acids?


1583

Lysine and Leucine


1584

Q0793:What factors increase the activation of the pyruvate

dehydrogenase complex?


1585

Low ATP/ADP ratio (exercise);high NAD/NADH ratio;high

IC [Ca]


1586

Q0794:How many ATP equivalents are needed to generate

glucose from pyruvate?


1587

6 ATP equivalents


1588

Q0795:What are the 4 fates for pyruvate at the end of

glycolysis?


1589

1. Alanine;2. oxaloacetate;3. Acetyl CoA;4. Lactate


1590

Q0796:What is the function of the Cori cycle?


1591

transfers excess reducing equivalents from RBCs and muscle

to the liver; shifts the metabolic burden to the liver


1592

Q0797:What are the steps in the TCA cycle?


1593

Citrate > isocitrate > a-ketoglutarate > succinyl CoA >

succinate > fumate > malate > OAA


1594

Q0798:What cofactors are required for the a-ketoglutarate

dehydrogenase complex?


1595

B1; B2; B3; B5; lipoic acid


1596

Q0799:Which complexes bring protons across the inner

mitochondrial membrane?


1597

Complexes I; III; IV


1598

Q0800:In oxidative phosphorylation; how many ATP are

produced from 1 NADH?


1599

3 ATP


1600

Q0801:In oxidative phosphorylation; how many ATP are

produced from 1 FADH2?


1601

2 ATP


1602

Q0802:What are the three categories of oxidative

phosphorylation poisons?


1603

1. e- transport inhibitors;2. ATPase inhibitors;3. Uncoupling

agents


1604

Q0803:What are the 4 irreversible enzymes of

gluconeogenesis and where are they located?


1605

1. Pyruvate carboxylase (mitochondria);2. PEP carboxykinase

(PEPCK; cytosol);3. Fructose 1;6-bisphosphatase

(cytosol);4. Glucose 6-phophotase (ER)


1606

Q0804:What tissues contain the irreversible enzymes of

gluconeogenesis?


1607

liver; kidney; intestinal epithelium;muscle does not contain

G6Ptase and cannot participate in gluconeogenesis


1608

Q0805:Deficiency of key gluconeogenic enzymes causes what

symptoms?


1609

hypoglycemia


1610

Q0806:The HMP shunt occurs in what parts of the body?


1611

lactating mammary glands; liver; adrenal cortex


1612

Q0807:In what part of the cell does the HMP shunt occur?


1613

cytoplasm


1614

Q0808:What enzyme is required for the irreversible reaction

of the HMP shunt producing NADPH?


1615



1616

Q0809:What is the product of the reversible reaction of HMP

shunt?


1617

Ribose-5-phosphate (for nucleotide synthesis) and

Glyceraldehyde 3-phosphate; fructose 6-

phosphate(intermediate of gyloslysis)


1618

Q0810:GLUT2 receptors are found in which cells?


1619

b-cells in the pancreas; Liver; kidney


1620

Q0811:GLUT4 receptors are found in which cells?


1621

Muscles and Fat


1622

Q0812:What is the general function of insulin?


1623

-moves glucose into cells;-inhibits glucagon secretion from a-

cells in pancreas


1624

Q0813:Which organs do not require insulin for glucose

uptake?


1625

Brain;RBCs;Intestine;Cornea;Kidney;Liver


1626

Q0814:What are the anabolic effects of insulin?


1627

increased glucose transport;increased glycogen synthesis and

storage;increased triglyceride synthesis and storage;increased

Na retention;increased protein synthesis


1628

Q0815:What is the role of glycogen in skeletal muscle?


1629

rapidly metabolize glucose during exercise


1630

Q0816:What is the role of glycogen in hepatocytes?


1631

storage depot to maintain blood sugar at appropriate levels.


1632

Q0817:What are the main reactions of

glycogenesis/degradation?


1633

G6P > G1P > UDP-glucose > branched version > limit

dextran > debranched glycogen


1634

Q0818:What are the 4 glycogen storage diseases?


1635

Von Gierke's Dz (Type I);Pompe's Dz (Type II);Cori's Dz

(Type III);McArdle's Dz (Type V)


1636

Q0819:What are the findings of Von Gierke's Dz?


1637

severe fasting hypoglycemia; high glycogen in the liver;

increased blood lactate; hepatomegaly


1638

Q0820:What is the deficient enzyme in Von Gierke's Dz?


1639

Glucose-6-phosphate


1640

Q0821:What are the findings of Pompe's dz?


1641

cardiomegaly and systemic findings leading to early death


1642

Q0822:What is the deficient enzyme in Pompe's Dz?


1643

Lysosomal a-1;4-glucosidase (acid maltase)


1644

Q0823:What are the findings of Cori's disease?


1645

Milder form of Van Gierke's (Type I) with normal blood

lactate levels


1646

Q0824:What is the deficient enzyme in Cori's Dz?


1647

debranching enzyme (a-1;6-glucosidase


1648

Q0825:What are the findings of McArdle's dz (Type V)?


1649

increased glycogen in muscle but cannot break it down ->

painful cramps and myoglobinuria with strenuous exercise


1650

Q0826:What is the deficient enzyme in McArdle's Dz?


1651

skeletal muscle phosphorylase


1652

Q0827:A full-term neonate of uneventful delivery becomes

mentally retarded and hyperactive and has a musty odor.

What is the dx?


1653

PKU


1654

Q0828:A stressed executive comes home from work;

consumes 7 or 8 martinis in rapid succession before dinner;

and becomes hypoglycemic. What is the mechanism?


1655

Increase in NADH prevents gluconeogenesis by shunting

pyruvate and oxaloacetate to lactate and malate


1656

Q0829:A 2 year-old girl has an increase in abdominal girth;

failure to thrive; and skin and hair depigmentation. What is the

dx?


1657

Kwashiorkor


1658

Q0830:Alcoholic develops a rash; diarrhea; and altered mental

status. What is the Vitamin Deficiency?


1659

Vitamin B3 (pellagra)


1660

Q0831:A 51-year-old man has black spots in his sclera and

has noted that his urine turns black upon standing. What is his

dx?


1661

Alkaptonuria


1662

Q0832:A 25-year-old male complains of severe chest pain and

has xanthomas of his Achilles tendons. What is the dz and

where is the defect?


1663

Familial hypercholesterolemia; LDL receptor


1664

Q0833:A woman complains of intense muscle cramps and

darkened urine after exercise. What is the dx?


1665

McArdle's Dz


1666

Q0834:Two parents with albinismhave a sone who is normal.

Why is the son not affected?


1667

Locus heterogeneity


1668

Q0835:A 40-year-old man has chronic pancreatitis with

pancreatic insufficiency. What vitamins are likely deficient?


1669

A;D;E;K


1670

Q0836:What are the fat soluble vitamins?


1671

A;D;E;K


1672

Q0837:What two organs contribute most to the absorption of

fat-soluble vitamins?


1673

gut (ileum) and pancreas


1674

Q0838:What dzs can cause fat soluble vitamin deficiencies?


1675

Malabsorption syndromes such as CF; celiac sprue; miner oil

intake can also cause deficiencies


1676

Q0839:Which vitamins are water soluble?


1677

B1; B2;B3;B5;B6;B12;C;Biotin;Folate


1678

Q0840:Which water soluble vitamin does NOT wash out of

the body easily and why?


1679

Vit B12 because it is stored in the liver


1680

Q0841:What are some common symptoms of B-complex

deficiencies?


1681

dermatitis; glossitis; and diarrhea


1682

Q0842:What is another name for Vitamin A?


1683

Retinol


1684

Q0843:A deficiency in Vitamin A causes what symptoms?


1685

night blindness; dry skin


1686

Q0844:What is the function of Vitamin A?


1687

constituent of visual pigments


1688

Q0845:Excess of Vitamin A causes what symptoms?


1689

arthralgias; fatigue; headaches; skin changes; sore throat;

alopecia


1690

Q0846:What is another name for Vitamin B1?


1691

thiamine


1692

Q0847:A deficiency in Vitamin B1 causes what symptoms?


1693

BeriBeri and Wernike-Korsakoff syndrome


1694

Q0848:What is the function of Vitamin B1?


1695

a cofactor for oxidative decarboxylation of a-keto acids and a

cofactor in the HMP shunt


1696



1697

riboflavin


1698



1699

angular stomatitis; Cheilosis; corneal vascularization


1700



1701

Cofactor for oxidation and reduction (e.g; FADH2)


1702



1703

niacin


1704



1705

Pellagra: diarrhea; dermatitis; dementia


1706



1707

Constituent of NAD; NADP (redox rxns); derived from

tryptophan


1708



1709

pantothenate


1710



1711

dermatitis; enteritis; alopecia; adrenal insufficiency


1712



1713

Constituent of CoA and component of FA synthase


1714

Q0858:A deficiency in Vitamin C causes what symptoms?


1715

Scurvy - swollen gums; bruising; anemia; poor wound healing


1716

Q0859:What is the function of Vitamin C?


1717

needed for the hydroxylation of proline and lysine in collagen

synthesis; keeps Fe+2 in a reduced state increaseinf Fe

absorption; cofactor for DA->NE


1718

Q0860:A deficiency in Vitamin A causes what symptoms?


1719



1720

Q0861:What is the function of Vitamin A?


1721

constituent of visual pigments


1722

Q0862:Excess of Vitamin A causes what symptoms?


1723

arthralgias; fatigue; headaches; skin changes; sore throat;

alopecia


1724



1725

thiamine


1726



1727

a cofactor for oxidative decarboxylation of a-keto acids and a

cofactor in the HMP shunt


1728



1729

riboflavin


1730



1731

angular stomatitis; Cheilosis; corneal vascularization


1732



1733

Cofactor for oxidation and reduction (e.g; FADH2)


1734



1735

niacin


1736



1737

Pellagra: diarrhea; dermatitis; dementia


1738



1739

Constituent of NAD; NADP (redox rxns); derived from

tryptophan


1740



1741

pantothenate


1742



1743

dermatitis; enteritis; alopecia; adrenal insufficiency


1744



1745

Constituent of CoA and component of FA synthase


1746



1747

pyridoxine


1748



1749

convulsions; hyperirritability; peripheral neuropathy


1750



1751

converted to pyridoxal phosphate; a cofactor in

transanimation; decarboxylation and heme synthesis


1752



1753

cobalamin


1754



1755

macrocytic; megaloblastic anemia; neurologic symptoms;

glossitis


1756



1757

cofactor in homocysteine methylation and methylmalonyl Co-

A handlining


1758

Q0880:B12 is found in what types of foods?


1759

Only animal products


1760

Q0881:What test is used to detect a B12 deficiency?


1761

Schilling Test


1762

Q0882:What are the three main causes of a B12 deficiency?


1763

Malabsorption; lack of intrinsic factor (pernicious anemia) or

absence of terminal ileum (chron's dz)


1764

Q0883:A deficiency in folic acid causes what symptoms?


1765

macrocytic megaloblastic anemia w/o neuro symptoms (unlike

B12)


1766

Q0884:What is the function of Folic acid?


1767

coenzyme for 1-carbon transfers (methylation rxns); needed

for the synthesis of nitrogenous bases in DNA and RNA


1768

Q0885:Supplemental folic acid is given in pregnancy to

prevent what defects?


1769

neural tube


1770

Q0886:What is the folic acid precursor in bacteria?


1771

PABA


1772

Q0887:A deficiency in biotin causes what symptoms?


1773

dermatitis; enteritis


1774

Q0888:What is the function of biotin?


1775

cofactor for carboxylation rxns: pyruvate -> oxaloacetate;

Acetyl CoA -> malonyl CoA; Proprionyl CoA ->

methylmalonyl CoA


1776

Q0889:What is another name for Vitamin C?


1777

Ascorbic acid


1778

Q0890:A deficiency in Vitamin C causes what symptoms?


1779

Scurvy - swollen gums; bruising; anemia; poor wound healing


1780

Q0891:What is the function of Vitamin C?


1781

needed for the hydroxylation of proline and lysine in collagen

synthesis; keeps Fe+2 in a reduced state increaseinf Fe

absorption; cofactor for DA->NE


1782

Q0892:A deficiency in Vitamin D causes what symptoms?


1783

Rickets in children and osteomalacia in adults (improper bone

mineralization); hypocalcemic tetany


1784

Q0893:What is the function of Vitamin D?


1785

Increased absorption of Ca and P in the gut


1786

Q0894:What is the mechanism by which Vitamin D

deficiency causes tetany?


1787

less D -> less Ca -> lowering the membrane potential of a cell

-> making it easier to get to threshold for AP


1788

Q0895:Excess of Vitamin D causes what symptoms?


1789

Hypercalcemia; stupor; lossof appetite


1790

Q0896:A deficiency in Vitamin E causes what symptoms?


1791

Increased fragility of erythrocytes; neurodysfunction


1792

Q0897:What is the function of Vitamin E?


1793

Antioxidant: protects erythrocytes from hemolysis


1794

Q0898:A deficiency in Vitamin K causes what symptoms?


1795

Neonatal hemorrhage with increased PT and PTT; but normal

bleeding time (neonates unable to synthesize Vit K)


1796

Q0899:What is the function of Vitamin K?


1797

Catalyzes gamma-carboxylation of glutamic acid residues on

various proteins concerned with clotting; synthesized by

intestinal flora


1798

Q0900:What can cause a Vitamin K deficiency?


1799

braod spectrum antibiotics (killing intestinal flora)


1800

Q0901:What are the Vitamin K dependent clotting factors?


1801

II; VII; IX; X; protein C and S


1802

Q0902:Which drug is a Vitamin K antagonist?


1803

Warfarin


1804

Q0903:A deficiency in zinc causes what symptoms?


1805

delayed wound healing; hypogonadism; decreased adult hair


1806

Q0904:Outline the pathway of ethanol metabolism.


1807

ethanol ->[alcohol dehydrogenase] -> Acetaldehyde -

>[acetaldehyde dehydrogenase]-> acetate


1808

Q0905:What is the limiting reagent in the ethanol metabolism

pathway?


1809

NAD+


1810

Q0906:What are the pharmacokinetics of alcohol

dehydrogenase?


1811

zero-order


1812

Q0907:Which drug inhibits acetaldehyde dehydrogenase

allowing for the accumulation of acetaldehyde and increasing

hangover symptoms?


1813

Disulfiram (anabuse)


1814

Q0908:Describe the mechainsm for ethanol hypoglycemia in

chronic alcoholics.


1815

Ethanol metabolism -> increased NADH/NAD+ ratio in liver

-> pyruvate diverts to lactate and OAA diverts to malate ->

inhibition of gluconeogenesis


1816

Q0909:Kwashiorkor is malnutrition resulting from what

deficiency?


1817

protein


1818

Q0910:What does a pt with Kwashiorkor look like?


1819

small child with a swollen belly


1820

Q0911:Marasmus is a malnutrition syndrome resulting from

what deficiency?


1821

calories/energy


1822

Q0912:What does a pt with marasmus look like?


1823

small child with tissue and muscle wasting


1824

Q0913:Describe the structure of chromatin.


1825

(-)charged DNA loops choice around nucleosome core to form

a nucleosome bead; H1 ties the nucleosomes together in a

string


1826

Q0914:Which is the only histone that is not in the

nucleosome core?


1827

H1


1828

Q0915:Which form of chromatin is transcriptionally inactive?

Active?


1829

Inactive: heterochromatin Active: Euchromatin


1830

Q0916:Which amino acids are necessary for purine synthesis?


1831

Glycine; Aspartate; Glutamine


1832

Q0917:Which nucleotide bonds are stronger and what is the

consequence of this?


1833

G-C bonds are stronger (3 H-bonds) resulting in a higher

melting temperature


1834

Q0918:In regards to nucleotides; what is transition?


1835

substitution of a purine for a purine or pyrimidine for

pyrimidine


1836

Q0919:In regards to nucleotides; what is transversion?


1837

substituting purine for pyrimidine or vice versa


1838

Q0920:What are the four main features of the genetic code?


1839

unambiguous; degenerate; nonoverlapping; universal


1840

Q0921:What does it mean to say that the genetic code is

degenerate?


1841

more than one codon may code for the same amino acid


1842

Q0922:What is the mechanism of base excision repair?


1843

Glycosylases remove damaged bases; endonuclease cuts DNA

at apyrimidinic site; sugar is removed; gap is filled and

resealed


1844

Q0923:What is the mechanism of mismatch repair?


1845

unmethylated; newly synthesized string is recognized;

mismatched nucleotides are removed; gap is filled and resealed


1846

Q0924:Which DNA repair mechanism is mutated in

hereditary nonpolyposis colon cancer?


1847

mismatch repair


1848

Q0925:What is the mechanism of nonhomologous end joining?


1849

bringing together two ends of DNA fragments


1850

Q0926:What is the direction of DNA/RNA/protein

synthesis?


1851

5' -> 3'


1852

Q0927:How are amino acids joined?


1853

N to C


1854

Q0928:What are the three types of RNA?


1855

mRNA; tRNA; rRNA


1856

Q0929:Which type of RNA is the most abundant?


1857

rRNA


1858

Q0930:Which type of RNA is the largest?


1859

mRNA


1860

Q0931:Which type of RNA is the smallest?


1861

tRNA


1862

Q0932:What is the function of RNA pol-I?


1863

makes rRNA


1864

Q0933:What is the function of RNA pol-II?


1865

Makes mRNA


1866

Q0934:What is the function of RNA pol-III?


1867

makes tRNA


1868

Q0935:What substance; found in death cap mushrooms;

inhibits RNA pol-II?


1869

a-amanitin


1870

Q0936:Which codon codes for methionine; thus initiating

mRNA?


1871

AUG


1872

Q0937:What are the three stop codons?


1873

UAA; UAG; UGA


1874

Q0938:Which phase of the cell cycle is the shortest?


1875

Mitosis


1876

Q0939:In which phase is new DNA synthesized?


1877

S phase


1878

Q0940:What type of cells remain in Go and are regenerated

from stem cells?


1879

Permanent cells such as neurons; skeletal and cardiac muscle;

RBCs


1880

Q0941:What type of cells enter G1 from Go when

stimulated?


1881

Stable cells such as lymphocytes and hepatocytes


1882

Q0942:What type of cells never go to Go and divide rapidly

with a short G1?


1883

Labile cells such as bone marrow; gut epithelium; skin; and

hair follicles


1884

Q0943:What is the function of the rough ER (RER)?


1885

synthesis of secretory (exported) proteins and N-linked

oligosaccharide addition to many proteins


1886

Q0944:What type of cells are rich in RER?


1887

Mucus-secreting goblet cells of the small intestine and

antibody-secreting plasma cells


1888

Q0945:What is the function of Nissl bodies in neurons?


1889

synthesize enzymes (e.g; ChAT) and peptide

neurotransmitters


1890

Q0946:What is the function of the smooth ER (SER)?


1891

site of steroid synthesis and detoxification of drugs and

poisons


1892

Q0947:What type of cells are rich in SER?


1893

liver hepatocytes and steroid hormone-producing cells of the

adrenal cortex


1894

Q0948:What are the 6 main functions of the Golgi apparatus?


1895

taking protwins and lipids from the ER to the

PM/lysosomes/secretory vesicles; 2. Modifies N-oligosac. On

asparagine; 3. adds O-oligosac to Ser and Thr; 4. addd

mannose-6P to lysosomal proteins (targeting to lysosome); 5.

prtoeoglycan assembly; 6. sulfation of sugar on proteoglycans


1896

Q0949:What is the pathophys of I-cell disease and what are

the consequences?


1897

mannose-6P cannot be added to the lysosomal proteins so

enzymes are secreted out of the cell instead of being targeted

to the lysosome


1898

Q0950:What are the characteristics of I-cell disease?


1899

coarse facial features; clouded corneas; restricted joint

movement; high plasma levels of lysosomal enzymes. Can be

fatal in childhood


1900

Q0951:What are the three main cvesicular trafficking proteins

and where do they go?


1901

1. COP-I: retrograde; Golgi -> ER; 2. COP-II anterograde;

RER -> cis-Golgi; 3.Clathrin: trans-Golgi->lysosomes; plasma

membrane->endosomes (receptor mediated endocytosis)


1902

Q0952:In what cellular structures would one find

microtubules?


1903

flagella; cilia; mitotic spindles


1904

Q0953:What are the four main drugs that act on microtubules

and for what dz?


1905

1. Mebendazole/thiabendazole (antihelminthic); 2. Taxol (anti-

breast ca); 3. Grisofulvin (antifungal); 4.

Vineristine/vinblastine (anti-ca); 5. Colchicine (anti-gout)


1906

Q0954:What syndrome is caused by a defect in microtubule

polymerization resulting in decreased phagocytosis?


1907

Chediak-Higashi


1908

Q0955:Describe the structure of cilia.


1909

9+2 arrangement of microtubules; doublets linked by dynein

ATPase and allows for the bending of cilia


1910

Q0956:Which protein is responsible for retrograde motion of

cilia? Anterograde?


1911

retrograde = dynein; anterograde = kinesin


1912

Q0957:What is Kartagener's syndrome?


1913

immobile cilia due to a dynein arm defect


1914

Q0958:What are the symptoms of Kartagener's syndrome?


1915

infertility in both males and females; bronchiectasis; recurrent

sinitus (any place where cilia are moving things around)


1916

Q0959:What are the two most abundant components of the

plasma membrane?


1917

cholesterol and phospholipids


1918

Q0960:What is the major component of RBC membranes;

myelin; bile and surfactant?


1919

phosphatidylcholine (lecithin)


1920

Q0961:What is the NA/ K exchange ratio in a Na/K ATPase

pump?


1921

3 Na out:2 K in


1922

Q0962:Explain when in the exchange is the Na/K ATPase

pump phosphorylated/dephos?


1923

Phosphorylated to let Na out (ATP->ADP) and

dephosphorylated to let K in


1924

Q0963:What is the most abundant protein in the human

body?


1925

collagen


1926

Q0964:90% of all collagen is of what type?


1927

Type I


1928

Q0965:Type I collagen provides support for which

organs/functions?


1929

Bone; Skin; Tendon; dentin; fascia; cornea; late wound repair


1930

Q0966:Type II collagen provides support for which

organs/functions?


1931

Cartilage; vitreous body; nucleus pulposus


1932

Q0967:Type III collagen provides support for which

organs/functions?


1933

Reticulin: skin; blood vessels; uterus; fetal tissue; granulation

tissue


1934

Q0968:Type IV collagen provides support for which

organs/functions?


1935

Basement membrane or basa lamina


1936

Q0969:What are the four phases of collagen synthesis in the

fibroblasts and where do they take place?


1937

1. synthesis (RER); 2. hydroxylation (ER); 3. glycosylation

(Golgi); 4. exocytosis as procollagen


1938

Q0970:What are the two phases of collagen synthesis that

occur outside of the fibroblasts?


1939

1. proteolytic processing (procollagen ->tropocollagen); 2.

cross-linking by covalent Lys-hydroxylysine = collagen fibrils


1940

Q0971:What stage of collagen synthesis requires Vitamin C?


1941

hydroxylation in the ER


1942

Q0972:What are the three signs of Ehlers-Danlos syndrome?


1943

1. hyperextensible skin; 2. tendency to bleed; 3. hypermobile

joints (faulty collagen synthesis)


1944

Q0973:What type of collagen is most affected by Ehlers-

Danlo syndrome?


1945

Type III (blood vessel instability)


1946

Q0974:What is the most common form of osteogenesis

imperfecta?


1947

AD inheritance with abnl Type I synthesis


1948

Q0975:What are the key clinical features of osteogenesis

imperfecta?


1949

1. multiple fractures from minimal trauma (brittle bone); 2.

blue sclerae (translucency of connective tissue over the

choroid); 3. hearing loss; 4. dental imperfections


1950

Q0976:What may osteogenesis imperfecta be confused with

upon examination?


1951

child abuse


1952

Q0977:For the following cell type; state the

immunohistochemical stain used to see it: connective tissue


1953

Vimentin


1954


immunohistochemical stain used to see it: Muscle


1955

Desmin


1956


immunohistochemical stain used to see it: Epithelial cells


1957

cytokeratin


1958


immunohistochemical stain used to see it: Neuroglia


1959

glial fibrillary acid proteins (GFAP)


1960


immunohistochemical stain used to see it: neurons


1961

neurofilaments


1962

Q0982:In what structures does one find elastin?


1963

lungs; large arteries; elastic ligaments


1964

Q0983:Elastin is rich in which two amino acids?


1965

Proline and lysine


1966

Q0984:Marfan syndrome is caused by a defect in which

component of elastin?


1967

fibrillin


1968

Q0985:Elastase is inhibited in which disease? (Hint: it also

causes early-onset emphysema)


1969

a1-antitrypsin deficiency


1970

Q0986:What syndrome is caused by a defect in microtubule

polymerization resulting in decreased phagocytosis?


1971

Chediak-Higashi


1972

Q0987:Fructose intolerance is a hereditary deficiency of what

enzyme?


1973

Aldolase B


1974

Q0988:What is the pathophys of fructose intolerance?


1975

fructose-1-P accumulates causing decreased available

phosphate resulting in inhibition of glycogenolysis and

gluconeogenesis


1976

Q0989:What is the tx for fructose intolerance?


1977

decrease intake of both fructose and sucrose (glucose and

fructose)


1978

Q0990:Essential fructosuria is a defect in which enzyme?


1979

fructokinase


1980

Q0991:Galactosemia results from the absence in what

enzyme?


1981

galactose-1-phosphate uridyltransferase


1982

Q0992:What is the pattern of inheritance in galactosemia?


1983

AR


1984

Q0993:What are the symptoms of galactosemia?


1985

cataracts; hepatosplenomegaly; mental retardation


1986

Q0994:Lactase deficiency is a hereditary lactose intolerance

due to a loss of what type of enzyme?


1987

Brush border enzyme


1988

Q0995:What demographic is most susceptible to lactase

deficiency and what are the sx?


1989

blacks; Asians; bloating; cramps; osmotic diarrhea


1990



1991

Phe; Val; Trp; Thr; Ile; Met; His; Arg; Leu; Lys


1992

Q0997:what is the pathophys of hyperammonemia?


1993

excess NH4 depletes a-ketoglutarate; leading to inhibition of

TCA cycle


1994

Q0998:What are the sx of ammonia intoxication?


1995

tremor; slurring of speech; somnolence; vomiting; cerebral

edema; blurring vision


1996

Q0999:What are the three main derivatives of phenylalanine?


1997

Dopamine; NE; Epi


1998

Q1000:What are the three main derivatives of tryptophan?


1999

Niacin; serotonin; melatonin


2000

Q1001:What causes the musty odor of PKU?


2001

disorder of excess aromatic amino acids


2002

Q1002:Variable inheritance of albinism is due to what genetic

mechanism?


2003

locus heterozygosity


2004

Q1003:Albinism is a congential deficiency one of which two

items?


2005

1. Tyrosine (auto. Recess.) or 2. defective tyrosine

transporters


2006

Q1004:All forms of homocystinuria have wha inheritance

pattern?


2007

autosomal recessive


2008

Q1005:What are the sx of homocystinuria?


2009

mental retardation; osteoporosis; tall stature; kyphosis; lens

subluxation; atherosclerosis (stroke and MI)


2010

Q1006:The conversion of methionine to cysteine is dependent

on which two vitamins?


2011

B6 (homocysteine to cystothionine) and B12 (homocysteine

back to Met)


2012

Q1007:Maple syrup urine disease is due to what defect?


2013

Blocked degradation of branced amino acid (Ile; Val; Leu) due

to decreased a-ketoacid dehydrogenase


2014

Q1008:What are the sx of maple syrup urine disease?


2015

CNS defecs; mental retardation and death


2016

Q1009:Adenosine deanimase deficiency can cause what other

major immunologic complication?


2017

SCID


2018

Q1010:For the following lysosomal storage dz state (1) main

findings; (2) deficient enzyme; (3)accumulated substrate and

(4) inheritance pattern: Fabry's Dz


2019

1. peripheral neuropathy of hands/feet; CV/renal dz;2. a-

galactosidase A;3. ceramide trihexoside;4. XR


2020



(4) inheritance pattern: Gaucher's Dz


2021

1. hepatosplenomegally; aseptic necrosis of femur; bone

crises; Gaucher cells (macrophages);2. B-glucocerebrosidase;3.

glucocerebroside;4. AR;Most common lysosomal storage dz


2022



(4) inheritance pattern: Neimann-Pick


2023

1. progressive neurodegeneration; hepatosplenomegally;

cherry red spot (on macula);2. Sphingomyelinase;3.

Shingomyelin;4. AR


2024



(4) inheritance pattern: Tay-Sachs


2025

1. progressive neurodegeneration; developmental delay;

lysozymes with onion skin;2. Hexosaminidase A;3. GM2

ganglioside;4. AR


2026



(4) inheritance pattern: Krabbe's dz


2027

1. peripheral neuropathy; developmental delay; optic

atrophy;2. B-galactosidase;3. Galactocerebroside;4. AR


2028



(4) inheritance pattern: Metachromic leukodystrophy


2029

1. central and peripheral demyelination with ataxia and

dementia;2. Arylsulfatase A;3. Cerebroside sulfate;4. AR


2030

Q1016:In fatty acid synthesis; the conversion of Acetyl-CoA

to Malonyl CoA requires what cofactor?


2031

Biotin


2032

Q1017:In fatty acid synthesis; what mechanism carries acetyl

CoA across the inner mitochondril membrane into the

cytoplasm?


2033

Citrate shuttle


2034

Q1018:In fatty acid degradation; what mechanism carries acyl

CoA across the inner mitochondrial membrane into the

mitochondria?


2035

carnitine shuttle


2036

Q1019:What is the rate limiting step in fatty acid degradation?


2037

Carnitine shuttle


2038

Q1020:Under what physiological conditions will one see

ketone bodies?


2039

DKA or prolonged starvation


2040

Q1021:The rate limiting step in cholesterol synthesis is

catalyzed by which enzyme?


2041

HMG-CoA reductase


2042

Q1022:What is the classification of the drug Lovastatin?


2043

HMG-CoA reductase inhibitor


2044

Q1023:What are the two essential fatty acids?


2045

Linoeic acid and linolenic acid


2046

Q1024:What is the function of pancreatic lipase?


2047

degradation of TG in sm intestine


2048

Q1025:What is the function of lipoprotein lipase?


2049

degradation of TG circulating in chylomicrons and VLDLs


2050

Q1026:What is the function of Hepatic TG lipase?


2051

degradation of TG remaining in IDL


2052

Q1027:What is the function of hormone-sensitive lipase?


2053

Degradation of TG stored in adipocytes


2054

Q1028:What is the funtion of lecithin-cholesterol

acyltransferase (LCAT)?


2055

catalyzes the esterification of cholesterol


2056

Q1029:what is the function of cholesterol ester transfer

protein (CETP)?


2057

mediated the transfer of cholesterol esters to other lipoprotein

particles


2058

Q1030:What is the role of apolipoprotein A-I?


2059

activates LCAT


2060

Q1031:What is the role of apolipoprotein B-100?


2061

binds to LDL receptor; mediates VLDL secretion


2062

Q1032:What is the role of apolipoprotein C-II?


2063

cofactor for lipoprotein lipase


2064

Q1033:What is the role of apolipoprotein B-48?


2065

mediates chylomicrom secretion


2066

Q1034:What is the role of apolipoprotein E?


2067

Mediates remnant uptake (Extra uptake)


2068

Q1035:What is the function of the following lipoprotein:

Chylomicron


2069

delivers dietary TGs to peripheral tissues and cholesterol to

the liver


2070

Q1036:What apo's are associated with chylomicrons?


2071

B-48; A;C; and E


2072


VLDL


2073

delivers hepatic TGs to peripheral tissues


2074

Q1038:what apos are associated with VLDL?


2075

B-100; C-II and E


2076

Q1039:What is the function of the following lipoprotein: IDL


2077

Delivers TGs and cholesterol to the liver to be degraded to

LDL


2078

Q1040:What apos are associated with IDL?


2079

B-100 and E


2080

Q1041:What is the function of the following lipoprotein: LDL


2081

delivers hepatic cholesterol to peripheral tissues


2082

Q1042:What apos are associated with LDL?


2083

B-100


2084


HDL


2085

mediates centripital transport of cholesterol (periphery to

liver); repository for apoC and apoE


2086

Q1044:Hypercholesterolemia has which Family type? what is

increased?


2087

Type IIa;Increased LDL


2088

Q1045:Combined hypercholesterolemia has which familial

type? what is increased?


2089

Type IIb;LDL; VLDL both increased


2090

Q1046:Hypertriglyceridemia has which familial type? what is

increased?


2091

Type IV;VLDL increased


2092

Q1047:Type IIa hypercholesterolemia has what

pathophysiology?


2093

decreased number of LDL receptors


2094

Q1048:What metabolic processes occur solely in the

mitochondria?


2095

FA oxidation (b-oxidation); acetyl CoA production; Krebs


2096

Q1049:What metabolic processes occur solely in the

cytoplasm?


2097

glycolysis; FA synthesis; HMP shunt; protein synthesis

(RER); steroid synthesis (SER)


2098

Q1050:What metabolic processes occur in both the

mitochondria and the cytoplasm?


2099

Gluconeogenesis; urea cycle; heme synthesis


2100

Q1051:Regeneration of methionine (and thus S-adenosyl-

methionine/SAM) is dependent on what factor?


2101

B12


2102

Q1052:What three enzymes are associated with respiratory

burst in the phagolysosome?


2103

NADPH oxidase;Superoxide dismutase;Myeloperoxidase


2104

Q1053:What three enzymes are associated with oxidative

burst in the neutrophil?


2105

Catalase/glutathione peroxidase;Glutathione reductase;G6PD


2106

Q1054:Fructose intolerance is an inherent deficiency of what

enzyme?


2107

aldolase B


2108

Q1055:What metabolic processes are inhibited from a fructose

deficiency?


2109

glyogenolysis and gluconeogenesis


2110

Q1056:What are the symptoms of fructose intolerance?


2111

hypoglycemia; jaundice; cirrhosis; vomiting


2112

Q1057:What is the treatment for fructose intolerance?


2113

decrease intake of fructose and sucrose (glucose and fructose)


2114

Q1058:the appearance of fructose in the blood or urine is due

to a defect in what enzyme? What is the px?


2115

fructokinase; the condition in benign and asymptomatic


2116

Q1059:Galactosemia is caused by the absence of what

enzyme?


2117

galactose-1-phosphate uridyltransferase


2118

Q1060:What is the inheritance pattern and sx of galactosemia?


2119

AR; cataracts; hepatosplenomegally; mental retardation


2120

Q1061:Lactase deficiency is due to a loss of the enzyme from

what area of the body?


2121

Brush border


2122

Q1062:What are the symptoms of lactase deficiency?


2123

bloating; cramps; osmotic diarrhea


2124

Q1063:Which are the essential amino acids?


2125

Leu; Lys; Ile; Phe; Trp; Met; Thr; Val; Arg; His


2126

Q1064:Which two essential amino acids are increased in

histones which bind negatively charged DNA?


2127

Arg; Lys


2128

Q1065:What is the direct effect of excess NH4

(hyperammonemia) on metabolism?


2129

depletes a-ketoglutarate -> inhibition of the TCA cycle


2130

Q1066:What is the treatment for hyperammonenmia?


2131

Arginine


2132

Q1067:What are the signs of ammonia intoxication?


2133

tremor; slurring of speech; somnolence; vomiting; cerebral

edema; blurring of vision


2134

Q1068:What is the fnxn of the urea cycle?


2135

to degrade amino acids into amino groups


2136

Q1069:What are the 8 main players in the urea cycle?


2137

Ornithine; Carbamoyl; Citruline; Aspartate;

Argininosuccinate; Fumarate; Arginine; Urea;Ordinarily

Careless; Crappers Are Also Frivolous About Urination


2138

Q1070:What are the main derivatives of Phenylalanine?


2139

Tyrosine;Dopamine;NE ;EPI


2140

Q1071:What are the main derivatives of Tryptophan?


2141

Niacin (NAD/NADP);Serotonin;Melatonin


2142

Q1072:What are the main derivatives of Histidine?


2143

Histamine


2144

Q1073:What are the main derivatives of Glycine?


2145

Heme


2146

Q1074:What are the main derivatives of Arginine?


2147

Creatine;Urea;NO


2148

Q1075:What are the main derivatives of glutamate?


2149

GABA


2150

Q1076:What enzyme is decreased in PKU?


2151

phenylalanine hydroxylase (or tetrahydrobiopterin cofactor)


2152

Q1077:What is the treatment for PKU?


2153

Decrease phenylalanine and increase tyrosine


2154

Q1078:Alkaptonuria is caused by a deficiency of what

enzyme?


2155

homogentisic acid oxidase (alkapton bodies cause urine to turn

black when standing)


2156

Q1079:Abinism is a congenital deficiency in what two

factors?


2157

Either tyrosinase or defective tyrosine transporters


2158

Q1080:Albinism exhibits variable inheritance due to what

mechanism?


2159

locus heterozygosity


2160

Q1081:What is the inheritance pattern for all three forms of

homocystinuria?


2161

AR


2162

Q1082:What are the three forms of homocystinuria?


2163

1. cystathionine synthase deficiency;2. decreased affinity of

cystathionine synthase for pyridoxal phosphate;3. methionine

synthase deficiency


2164

Q1083:Cystinuria is a common inherited defect of;


2165

the renal tubular amino acid transporter for cystine; ornithine;

lysine; and arginine


2166

Q1084:What can be a sequellae of excess cystine in the urine?


2167

cystine kidney stones


2168

Q1085:What is the treatment for cystinuria?


2169

acetazolamide (alkalinize the urine)


2170

Q1086:Maple syrup urine disease is caused by a decrease in

which enzyme?


2171

a-ketoacid dehydrogenase


2172

Q1087:Which amino acids canno be degraded in maple syrup

urine disease?


2173

Ile; Leu; Val;I Love Vermont maple syrup


2174

Q1088:What is codominance?


2175

Neither of two alleles is dominant (e.g. blood groups)


2176

Q1089:What is variable expression?


2177

nature and severity of the phenotype varies from 1 individual

to another


2178

Q1090:What is incomplete penetrance?


2179

Not all individuals with a mutant genotype show the mutant

phenotype


2180

Q1091:What is pleiotropy?


2181

1 gene has > 1 effect on an individual's phenotype


2182

Q1092:What is imprinting?


2183

At a single locus; only one allele is active; the other is inactive

(methylation).Differneces in phenotype depend on whether

the mutation is of maternal or paternal origin (e.g. Prader-Willi

= paternal)


2184

Q1093:What is anticipation?


2185

Severity of disease worsens or age of onset of disease is earlier

in succeeding generations (e.g. Huntington's)


2186

Q1094:What is loss of heterozygosity?


2187

If a patient inherits or develops a mutation in a tumor

suppressor gene; the complementary allele must be

deleted/mutated before the cancer develops (NOT true of

oncogenes)


2188

Q1095:What is a dominant negative mutation?


2189

exerts a dominant effect. A heterozygote produces a

nonfunctional altered protein that also prevents the normal

gene product from functioning


2190

Q1096:What is linkage disequilibrium?


2191

tendency for certain alleles at 2 linked loci to occur together

more often than expected by chance. Measured in a

population; not in a family; and often varies in different

populations


2192

Q1097:What is mosacism?


2193

when cells in the body have different genetic makeup

(e.g.lyonization--random X inactivation in females)


2194

Q1098:What is locus heterogeneity?


2195

Mutations at different loci can produce the same phenotype


2196

Q1099:If a population is in Hardy-weinberg equilibrium; how

do you measure allele prevalence?


2197

p^2 + 2pq + q^2 = 1; p and q are separate alleles and 2pq is

the prevalence of heterozygotes


2198

Q1100:If a population is in Hardy-weinberg equilibrium; how

do you measure allele prevalence?


2199

p + q = 1


2200

Q1101:What are the 4 assumptions of Hardy-Weinberg law?


2201

1. no mutation; 2. no selection for any of the genotypes at a

locus; 3. Random mating; 4. no migration into or out of a

population


2202

Q1102:In Prader-Willi; whose normally active allele is deleted

(maternal or paternal)?


2203

Paternal (opposite for angelman's)


2204

Q1103:What are some of the features of autosomal dominant

inheritance?


2205

many generations affected; both male and female; often

pleiotropic; present after puberty


2206

Q1104:What are some of the features of autosomal recessive

inheritance?


2207

25% of offspring from 2 carrier parents affected; due to

enzyme deficiencies; usually only seen in 1 generation; more

severe than AD; presents in childhood


2208

Q1105:What are some of the features of X-linked recessive

inheritance?


2209

Sons of heterozygous mothers have a 50% chance; commonly

more severe in males but heterozygous females may be

affected


2210

Q1106:What are some of the features of X-linked dominant

inheritance?


2211

transmitted through both parents; ALL female offspring of an

affected father will be diseased (either male of female from

mother); hypophosphatemic rickets


2212

Q1107:What are some of the features of mitochondrial

inheritance?


2213

transmitted only through mother; all offspring of affected

mother show disease; Leber's hereditary optic neuropathy


2214

Q1108:Mode of inheritance and major features: APKD


2215

AD; always bilateral; mutation in APKD1 (Chr 16); berry

aneurysms; mitral valve prolapse (juvie form is recessive)


2216

Q1109:Mode of inheritance and major features: familial

hypercholesterolemia


2217

AD; elevated LDL from a defective or absent LDL receptor;

severe atherosclerosis disease at young age; tendon xanthomas

(achilles); may have MI before age 20


2218

Q1110:Mode of inheritance and major features: Marfan's

Syndrome


2219

AD; fibrilin gene mutation = connective tissue disorders; tall;

aortic incomptenece and dissecting aortic aneurysms; floppy

mitral valve


2220

Q1111:Mode of inheritance and major features:

Neurofibromatosis; type 1


2221

AD long arm of chr. 17; café-au-lait spots; neural tumors;

Lisch nodules (pigmented iris hamartomas); pheo's


2222


Neurofibromatosis; type 2


2223

AD; bilateral acoustic neuroma; juvenile cataracts; NF2 gene

on chr 22 (type 2 = 22)


2224

Q1113:Mode of inheritance and major features: tuberous

sclerosis


2225

AD; facial lesions (adenoma sebaceum); hypopigmented "ash

leaf spots" on skin; cardiac rhabdomyomas; incomplete

penetrance/variable presentation


2226

Q1114:Mode of inheritance and major features: von Hippel-

Lindau dz (VHL)


2227

AD; hemangioblastomas of the retina/cerebellum/medulla;

50% develop multiple bilateral renal cell carcinomas; deletion

of VHL gene on Chr 3 (three words for Chr 3)


2228

Q1115:Mode of inheritance and major features: Huntington's


2229

AD; triplet repeat disorder on chr 4; depression; progressive

dementia; choreiform movements; caudate atrophy; decreased

levels of GABA and ACh in brain


2230

Q1116:Mode of inheritance and major features: Familial

adenomatus polyposis


2231

AD; progresses to colon cancer unless resected; Deletion on

chr. 5 (5 letters in polyp)


2232

Q1117:Mode of inheritance and major features: Hereditary

spherocytosis


2233

AD; spheroid erythrocytes; hemolytic anemia; increases

MCHC; splenectomy is curative


2234


Achondroplasia


2235

AD; cell-signalling defect of fibroblast growth factor (FGF)

receptor 3; dwarfism (short limbs but head and truck are

normal size); associated with advanced PATERNAL age


2236

Q1119:What gene is defective in cystic fibrosis?


2237

CFTR on chromosome 7


2238

Q1120:What are the typical manifestations of a pt with CF?


2239

recurrent pulmonary infections; infertility in males (absent

vas deferens); fat soluble vitamin deficiencies


2240

Q1121:What is the treatment for CF?


2241

n-acetylcysteine to loosen mucous plugs


2242

Q1122:What are the typical X-linked recessive disorders?


2243

Bruton's agammaglobulinemia; Fragile X; G6PD deficiency;

ocular albinism; Lesch-Nyhan; Duchenne's; Hemophilia A and

B; Fabry's dz; Hunter's syndrome


2244

Q1123:Duchenne's MD is caused by what type of genetic

mutation?


2245

Frame shift leading to deletion of the dystrophin gene


2246

Q1124:What movement is a diagnostic sign of Duchenne's

MD?


2247

Gower's maneuver


2248

Q1125:What is the less severe form of duchenne's MD?


2249

Becker's


2250

Q1126:What is the 2nd most common cause of genetic mental

retardation after Down's?


2251

Fragile X syndrome


2252

Q1127:What are the clinical features of Fragile X syndrome?


2253

macro-orchidism; long face with a large jaw; large everted ears;

autism


2254

Q1128:What type of disorder is Fragile X?


2255

Triple repeat (CGG) - may show anticipation


2256

Q1129:What are the trinucleotide repeat diseass?


2257

Huntington's; myotonic dystrophy; Friedreich's ataxia; Fragile

X


2258

Q1130:What are the three autosomal trisomies and which

chr's are affected?


2259

Down's (21); Edward's (18); Patau (13)


2260

Q1131:What are the prenatal signs of Down's?


2261

decreased a-fetoprotein; increased b-hCG; increased nuchal

translucency


2262

Q1132:Pts with Down's are at risk of developing what

neurological disorder?


2263

early-onset Alzheimer's


2264

Q1133:95% of Down's cases are due to what problem in

meiosis? What is the associated parental "problem"?


2265

meiotic nondisjunction of homologous chromosomes;

associated with advanced maternal age


2266

Q1134:Cri-du-chat is associated with what chromosomal

abnormality?


2267

congenital deletion of short arm of chr 5


2268

Q1135:22q11 syndromes are associted with what

signs/symptoms?


2269

cleft papate; abnormal facies; thymic aplasia (t-cell

deficiency); cardiac defects; hypocalcemia 2' to parathyroid

aplasia; variable presentation as DiGeorge


2270

Q1136:When are the risks for fetal alcohol syndrome the

greatest?


2271

3-8 weeks


2272

Q1137:What is the #1 cause of congenital malformations in

the US?


2273

Fetal Alcohol Syndrome


2274

Q1138:DNA polymerase III vs I


2275

III--5'->3' synthesis; 3'->5' exonuclease (proofread); I--

degrades RNA primer (5'->3' exonuclease); fills in gap

w/DNA


2276

Q1139:nucleotide excision repair vs base excision repair


2277

nuc--releases damaged OLIGOnucleotides (ex; in XP); base--

specific glycosylases recognize and remove damaged BASES


2278

Q1140:alpha-amanitin


2279

poison from a mushroom; inhibits euk RNA pol II (mRNA);

initially GI problems; rapidly results in death


2280

Q1141:different RNAs of the euk RNA polymerases


2281

RNA pol I--rRNA; RNA pol ii--mRNA; RNA pol III--tRNA


2282

Q1142:mRNA stop codons


2283

UGA; UAG; UAA


2284

Q1143:site where negative gene expression regulators bind


2285

operator


2286

Q1144:amino acid binds to which end of tRNA?


2287

3' end (CCA end)


2288

Q1145:I cell dz


2289

failure of addition of mannose-6-phosphate to lysosome

enzymes-->enzymes secreted outside cell; get coarse facial

features; clouded corneas; restricted jnt movement; high

plasma lysosomal enzymes; often fatal in childhood


2290

Q1146:vesicular trafficking protein--COPI-->


2291

retrograde; Golgi->ER


2292

Q1147:vesicular trafficking protein COPII--> ?


2293

anterograde; RER->cis-Golgi


2294

Q1148:vesicular trafficking protein clathrin--> ?


2295

trans-Golig-> lysosome; plasma membrane-> endosomes


2296

Q1149:type III collagen


2297

reticulin; in skin; blood vessels; uterus; fetal tissue;

granulation tissue. Most common type of Ehrlos-Danlers

involves this


2298

Q1150:type IV collagen found where?


2299

basement membrane; basal lamina


2300

Q1151:steps of collagen synthesis


2301

1. synthesis of preprocollagen (rER); 2. hydroxylation (ER;

requires vit C); 3. glycosylation (Golgi); 4. exocytosis (still as

procollagen); 5. proteolytic processing (tropocollagen); 6.

crosslinking (lysyl oxidase; collagen fibrils)


2302

Q1152:which type of osteogenesis imperfecta is fatal in utero

or in neonate?


2303

type II


2304

Q1153:vimentin stains?


2305

connective tissue


2306

Q1154:desmin stains?


2307

muscle


2308

Q1155:cytokeratin stains?


2309

epithelial cells


2310

Q1156:all enzymes except 1 of TCA are WHERE and

where/what is the exception?


2311

all but succinate DH are in mitochondrial MATRIX; succinate

DH is in inner mitochondrial membrane (along with ETC)


2312

Q1157:irreversible enzymes in gluconeogenesis (4)


2313

pyruvate carboxylase (mit; pyruvate->oxaloacetate); PEP

carboxykinase (cyt; oxalo->PEP); F1;6BPase (cyt; F1;6BP-

>F6P); G6Pase (er; G6P->glucose)


2314

Q1158:most potent activator of PFK? (rate limiter of

glycolysis)


2315

F2;6BP (overrides inhibition by ATP; citrate)


2316

Q1159:what are the only purely ketogenic amino acids?


2317

lysine; leucine


2318

Q1160:how much ATP produced per acetyl CoA in TCA

cycle?


2319

12 (3/NADH; 2/FADH2; 1/GTP)


2320

Q1161:what is rotenone


2321

fish poison that complexes with NADH DH (complex I of

ETC); NADH accumulates; but can still get electrons into

ETC from FADH2


2322

Q1162:what is antimycin A?


2323

abx that blocks passage of electrons through cytochrome b-c1

complex (ETC)


2324

Q1163:why is cyanide poisonous?


2325

combines with cytochrome oxidase and blocks electrons->O2

in ETC; (CO does this also)


2326

Q1164:what is dinitrophenol (2;4DNP)?


2327

ionophore that uncouples ETC


2328

Q1165:what is the enzyme of the irrerversible/oxidative

reaction of PPP (HMP shunt)?


2329

glucose phosphate DH


2330

Q1166:what is the enzyme of the reversible/nonoxidative

reaction in PPP (HMP shunt)?


2331

transketolase (requires thiamine)


2332

Q1167:essential fructosuria


2333

defect in fructokinase (F->F1P); however; this is benign and

asymptomatic; only get fructose in blood and urine


2334

Q1168:aldolase B deficiency--> ?


2335

(AR) fructose intolerance; F1P accumulates and decreases

available phosphate. This inhibits glycogenolysis;

gluconeogenesis; get hypoglycemia; jaundice; cirrhosis;

vomiting


2336

Q1169:which 5 essential amino acids are glucogenic?


2337

met; thr; val; arg; his;(Argh; This Here Mnemonic is Vile)


2338

Q1170:which essential amino acids are glucogenic and

ketogenic?


2339

Ile; Phe; Trp


2340

Q1171:Phe is precursor for?


2341

tyrosine; thyroxine; DOPA; melanin; DA; NE; Epi


2342

Q1172:Tryptophan is precursor for?


2343

niacin; serotonin; melatonin


2344

Q1173:glycine is precursos for?


2345

porphyrin; (succinyl CoA+ glycine-> ALA; via ALA

synthetase)


2346

Q1174:arginine is precursor for?


2347

creatine; NO; urea


2348

Q1175:glutamate is precursor for?


2349

GABA; your mom


2350

Q1176:cystinuria is inherited defect for renal transport of

which amino acids?


2351

cystine; ornithine; lysine; arginine


2352

Q1177:which GLUT is insulin responsive?


2353

GLUT 4 (adipose; sk mm)


2354

Q1178:which GLUT is in RBCs; brain?


2355

GLUT 1


2356

Q1179:GLUT 2 is where?


2357

beta islet cells; liver; kidney


2358

Q1180:which enzyme affected in a)Pb poisoning b) AIP c)

PCT


2359

a)ferrochelatase; ALA dehydrase; b) porphobilinogen

deaminase (formerly known as: uroporphyrinogen I

synthase); c) uroporphyrinogen decarboxylase


2360

Q1181:Full term neonate of uneventful delivery becomes

mentally retarded and hyperactive and has musty odor;WHat

is the diagnosis


2361

PKU


2362

Q1182:Stressed executive comes home from work consumes 7

or 8 martinis in rapid succession before dinner and becomes

hypoglycemic;WHat is the mechanism


2363

NADH increase prevents gluconeogenesis by shunting

pyruvate and oxaloacetate to lactate and malate


2364

Q1183:2 year old girl has increase in abdominal girth; failure

to thrive and skin and hair depigmentation - what is the

diagnosis


2365

Kwashiorkor


2366

Q1184:Alcoholic develops rash; diarrhea and altered mental

status;What is the vitamin defficiency


2367

B3 (pellagra)


2368

Q1185:20 year old male presents with idiopathic

hyperbillirubinemia;WHat is the most common cause


2369

Gilberts syndrome


2370

Q1186:51 year old man has black spots on his sclera and has

noted that urine turns black when he is standing


2371

Alkaptonuria


2372

Q1187:25 year old complains of chest pains and has

xanthoma of Achilles tendon;What is his disease and where is

the defect


2373

Familial hypercholesterolemia; lDL receptor


2374

Q1188:Condensed by negatively charged DNA looped twice

around positively charged H2a; H2b; H3 and H4 histones

(nucleosome bead)


2375

Chromatin


2376

Q1189:_ ties nucleosomes together in a string (30 nm fiber)


2377

H1 histone


2378

Q1190:Condensed; transcriptionally inactive chromatin


2379

Heterochromatin


2380

Q1191:Less condensed; transcriptionally active chromatin


2381

Euchromatin


2382

Q1192:Name purines


2383

A; G;PURe As Gold


2384

Q1193:Name pyrimidines


2385

C; T; U;CUT Pye


2386

Q1194:Which nucleotides have two rings?


2387

Purines


2388

Q1195:WHich nucleotides have one ring?


2389

Pyrimidines


2390

Q1196:Which nucleotide has a ketone


2391

guanine


2392

Q1197:Which nucleotide has methyl


2393

thymine


2394

Q1198:Deamination of cytosine makes _


2395

Uracyl


2396

Q1199:Uracil is found in _ ;Thymine is found in _


2397

Uracil - RNA;Thymine - DNA


2398

Q1200:Which bond is stronger GC or AT


2399

GC (3 H bonds); AT is weaker (2 H bonds)


2400

Q1201:If GC content is increased what happens to melting

temperature


2401

Increases


2402

Q1202:Nucleotides are linked by _


2403

3-5 phosphodiesterase bond


2404

Q1203:Substituting purine for purine or pyrimidine for

pyrimidine is called ?


2405

TransItion (identical)


2406

Q1204:Substituting purine for pyrimidine or vice versa


2407

TransVersion (conVersion between types)


2408

Q1205:4 features of genetic code


2409

Unambiguous (each codon for only one amino

acid);Degenerate (more then one codon can code for same

amino acid);COmmaless; nonoverlapping;Universal


2410

Q1206:Name type of mutation - same amino acid; often base

change in 3d position of codon tRNA wobble)


2411

Silent mutation


2412

Q1207:Name type of mutation - changed amino acid

(conservative - new amino acid is similar in chemical

structure)


2413

Missence mutation


2414

Q1208:Name type of mutation - change resulting in early stop

codon


2415

Nonsense mutation


2416

Q1209:Name type of mutation - change resulting in

misreading of all nucleotides downstream; usually resulting in

a truncated protein


2417

Frameshift mutation


2418

Q1210:In prokaryotic replication; is there single or multiple

origins of replication


2419

Single origin of replication - continuous DNA synthesis on

leading strand and discontinuous (okazaki fragments) on

lagging strand


2420

Q1211:What is the role of primase in prokaryotic replication


2421

Primase makes RNA PRIMER on which DNA polymerase

III can initiate replication


2422

Q1212:Elongates the chain by adding deoxynucleotides to the

3 end until it reaches primer of preceding fragment


2423

DNA polymerase III


2424

Q1213:Name enzyme that degrades RNA primer


2425

5'-3' exonuclease activity of DNA polymerase I


2426

Q1214:Has 5'-3' synthesis and proofreads with 3'-5'

exonuclease


2427

DNA polymerase III


2428

Q1215:Create a nick in the helix to relieve supercoils


2429

DNA topoisomerases


2430

Q1216:Name DNA repair defects


2431

Xeroderma pigmentosum (skin sensitivity to UV

light);Ataxia-telangiectasia (x rays);Blooms syndrome

(radiation);Fanconis anemia (cross linking agents)


2432

Q1217:Defective excision repair such as uvr ABC

endonuclease. Results in inability to repair thymidine dimers;

which form in DNA when exposed to UV light;Associated

with dry skin and with melanoma and other

cancers;Inheritance pattern


2433

Xeroderma pigmentosum;Autosomal recessive


2434

Q1218:In which direction is Dna and RNA synthesized


2435

5'-->3'


2436

Q1219:Chromatin Structure


2437

negatively charged DNA wrapped around a histone (H2A;

H2B; H3; H4); connected by H1;Condensed = hetero-;

inactive;Less condensed = eu-; active


2438

Q1220:Nucleotides


2439

Purines (A; G) large rings;Pyrimidines (C; U; T) small

rings;PURe As Gold;CUT the PY (pie)


2440

Q1221:Eukaryotic DNA polymerases


2441

alpha - replicates lagging strand; synthesizes RNA

primer;beta - repairs DNA;gamma - replicates mitochondrial

DNA;delta - replicates leading strand;epsilon - repairs DNA


2442

Q1222:DNA repair process


2443

endonuclease cleaves strand upstream;exonuclease clease

strand downstream;DNA polymerase Beta fills gap


2444

Q1223:DNA repair defects lead to disease


2445

Xeroderma Pigmentosum (UV light);Ataxia-Telangiectasia (X-

rays) ;Bloom's syndrome (radiation);Fanconi's anemia

(crosslinking agents)


2446

Q1224:Eukaryotic RNA polymerases


2447

polymerase I - rRNA;polymerase II - mRNA;

snRNPs;polymerase III - tRNA;no proofreading;alpha-

amanitin inhibits poly II


2448

Q1225:Start and Stop Codons


2449

Start;AUG (Are U Going?);Stop;UGA (U Go Away);UAA

(U Are Away);UAG (U Are Gone)


2450

Q1226:Regulation of Gene Expression


2451

Promoter - where RNA polymerase/transcription factors bind

upstream;TATA (25 bp upstream);CAAT (70 bp

upstream);Enchancer - where transcription factors bind to

increase expression


2452

Q1227:RNA processing


2453

1. 5' 7-methyl-guanine cap;stability; mediates translation;2. 3'

Polyadenylation;stability; mediates nuclear export;3. Splicing

out introns;for fun?


2454

Q1228:tRNA Structure


2455

75-90 nucleotides;anticodon end is opposite 3' aminoacyl ;3'

CCA sequence;chemically modified bases


2456

Q1229:tRNA charging


2457

aminoacyl-tRNA synthetase ;adds 1 aa to 3' end; using 1

ATP;proofreading capability


2458

Q1230:tRNA wobble


2459

allows many codons to match one tRNA with only the first

two bases of it's anticodon


2460

Q1231:PCR


2461

ligate/denature DNA;add premade specific probes;add heat-

stable DNA polymerase;repeat until DNA sequence is

amplified


2462

Q1232:Molecular Biology Techniques


2463

Southern - DNA probe to find DNA;Northern - DNA probe

to find RNA;Western - Ab probe to find

protein;Southwestern - DNA probe for TFs


2464

Q1233:ELISA


2465

labeled Ab/Ag to Ag/Ab in pt sample;used in HIV;Sn = Sp =

~100%


2466

Q1234:Inheritance Modes


2467

Auto Dom - structural genes;M/F affected equally;presents

after puberty;Auto Rec - 25% offspring of carriers;enzyme

deficiencies;present in childhood;X-link Rec - 50% sons of

hetero mom;X-link Dom - all F kids of sick dad ;M/F kids of

sick mom;hypophosphatemic rickets;Mitochondrial -

transmitted by mom;all kids may show dz;leber's hereditary

optic neuropathy;mitchondrial myopathies


2468

Q1235:Variable expression


2469

nature and severity of phenotype varies from one pt to

another


2470

Q1236:Incomplete penetrance


2471

Not all individuals with mutant genotype show dz phenotype


2472

Q1237:Pleiotropy


2473

one gene has greater than one effect on phenotype


2474

Q1238:Imprinting


2475

Differences in phenotype depend on whether the mutation is

of maternal or paternal origin;Angelmans - maternal

transmission;Prader-Willi - paternal transmission


2476

Q1239:Anticipation


2477

Severity of disease worsens or age of onset decreases in

successive generations


2478

Q1240:Loss of heterozygosity


2479

if a pt inherits or develops a mutation in a tumor suppressor

gene; the complementary allele must be deleted/mutated

before cancer develops (not true of oncogenes)


2480

Q1241:Dominant negative mutation


2481

exerts a dominant effect because the body cannot produce

enough of the normal gene product with only one functioning

allele or presence of the altered gene product inhibits the

normal product


2482

Q1242:Linkage disequilibrium


2483

two alleles at linked loci occur together more often than

probability would suggest.


2484

Q1243:Hardy Weinberg population genetics


2485

assumes no migration; no mutation; no natural selection; no

mating preferences


2486

Q1244:Down Syndrome


2487

mental and growth retardation;trisomy 21;tested with

karyotyping;1:800;increased risk with maternal age;decreased

AFP in amniotic fluid;polyhydramnios


2488

Q1245:Fragile X


2489

mental retardation;characteristic facial features;large testes;X-

linked;failure to express RNA binding protein


2490

Q1246:Sickle cell anemia


2491

recurrent painful crises;autosplenectomy -> imm

def;autosomal recessive;1 missense mutation in beta

globin;1:400 Af-Am


2492

Q1247:Cystic fibrosis


2493

recurrent pulmonary infections;exocrine pancreas

insufficiency;infertility;autosomal recessive;mutated CFTR

(Cl- channel);1/2000 whites


2494

Q1248:Neurofibromatosis


2495

cafe-au-lait

spots;neurofibromas;pheochromocytomas;autosomal

dominant;signaling molec loss-of-fxn mutations


2496

Q1249:Duchenne's Muscular Dystrophy


2497

muscular weakness and degeneration;X-linked

recessive;dystrophin gene deletion;Dx DNA

test;pseudohypertrophy of calf


2498

Q1250:Osteogenesis Imperfecta


2499

increased bone fx;blue sclera - translucent CT over

choroid;many mutations - abn collagen synth;1:10000


2500

Q1251:Phenylketonuria


2501

autosomal recessive;phenylalanine hydroxylase

deficiency;tetrahydrobiopterin cofactor deficiency;tyrosine

becomes essential;mental retardation;fair skin (decreased

melanin);eczema;musty body odor;decrease phenylalanine in

diet;increase tyrosine in diet


2502

Q1252:Fabry's disease


2503

X-linked recessive;alpha galactosidase deficiency;ceramide

trihexoside accumulation;renal failure;peripheral neuropathy

hands/feet;CV disease


2504

Q1253:Krabbe's disease


2505

Autosomal recessive;Bgalactosidase def;galactocerebroside

accumulation;optic atrophy;peripheral

neuropathy/spasticity;developmental delay


2506

Q1254:Gaucher's disease


2507

glucocerebrosidase def;glucocerebroside

accumulation;hepatosplenomegaly;aseptic necrosis of femoral

head;bone crises;Gaucher's cells (macrophages)


2508

Q1255:Niemann-Pick disease


2509

Autosomal recessive;sphingomyelinase def;sphingomyelin

accum in reticuloendothelial cells/parenchyma;leading to

organomegaly and progressive neurodegeneration;cherry red

spot on macula;No Man PICKs his nose w/ a SPHINGer


2510

Q1256:Tay-Sachs disease


2511

Autosomal recessive;Absence of hexosaminidase A;GM2

ganglioside accumulation;Askenazi Jews (carriers =

1/30);death by age 3;cherry red spot on macula


2512

Q1257:Metachromatic Leukodystrophy


2513

Autosomal recessive;arylsulfatase A deficiency;demyelination

with w/ ataxia; dementia;Cerebroside sulfate in brain; liver;

kidney; PNS


2514

Q1258:Hurler's syndrome


2515

Autosomal recessive;alpha-L-iduronidase deficiency;corneal

clouding;gargoylism;developmental delay;Hurlers (shot put)

do more damage than hunters (arrows)


2516

Q1259:Hunter's syndrome


2517

X-linked recessive;iduronate sulfatase deficiency;mild form of

Hurler's (mild retardation);with aggressive behavior;no corneal

clouding


2518

Q1260:Lineweaver Burke plots


2519

noncompetitive inhibitors change the Vmax (the y-intercept

will increase);competitive inhibitors change the Km (the x-

intercept will increase)


2520

Q1261:Sodium Potassium Pump


2521

BL membrane;moves 3 Na out; 2 K in; uses 1 ATP;inhibitied

by oubain; digoxin


2522

Q1262:Collagen synthesis and structure


2523

hydoxylation of proline/lysine residues in RER requires Vit

C;procollagen exocytosed into ECM;peptidases cleave

terminal portion;self-assembly into collagen fibrils;crosslinked

by lysyl oxydase


2524

Q1263:Ehlers-Danlos Syndrome


2525

faulty collagen synthesis causes;hyperextensible

skin;tendency to bleed;hypermobile joints


2526

Q1264:S-adenosyl methionine


2527

ATP + methionine = SAM;methyl group donor;makes

phosphocreatine;regeneration with B12


2528

Q1265:NAD+/NADPH


2529

NAD+ catabolic electron acceptor;NADPH anabolic electron

donor;product of HMP shunt;makes superoxide;regenerates

GSH;p450


2530

Q1266:Glycolysis: irreversible reactions


2531

glu to G6P;G6P inhibits hexokinase;F6P to

F1;6BP;ATP/citrate inhib PFK ;F2;6BP/AMP upreg

PFK;PEP to pyruvate;ATP/Ala inhib Pyr Kinase;F1;6BP

upreg Pyr Kinase;Pyr to AcetylCoA;ATP/NADH/AcylCoA

inhib Pyr DeH


2532

Q1267:Pyruvate Dehydrogenase Complex


2533

pyr + NAD+ + CoA -> ;AcylCoA + CO2 +NADH;3

enzymes;5 cofactors;B1 thiamine;B2 FAD;B3 NAD;B5

CoA;lipoic acid


2534

Q1268:Pyruvate Dehydrogenase Deficiency


2535

buildup of pyruvate and alanine;reduced to lactate ->

acidosis;seen in alcoholics in B1 deficiency;Rx: high

fat/ketogenic nutrients


2536

Q1269:Cori cycle


2537

shuttles lactate from muscle to liver for regeneration to

pyruvate;allows muscles to fxn anaerobically


2538

Q1270:TCA cycle


2539

12 ATP/Acyl CoA;24 ATP/glu molec;1st four enzymes are

inhib by ATP/NADH;Cindy Is Kind So She's Friendly More

Often


2540

Q1271:Gluconeogenesis: irreversible reactions


2541

Pyr to oxaloacetate;Pyr carb req

ATP/AcylCoA/biotin;Oxaloacetate to PEP;PEP carbK req

GTP;F1;6BP to F6P;F1;6BPase;G6P to glu;G6Pase;enzymes

in liver; kidney; intestine;hypogly with G6Pase def (von

Gierke's)


2542

Q1272:Glucose 6 Phosphate Dehydrogenase Deficiency


2543

rate limiting enzyme of HMP shunt;necessary for RBCs to

produce NADPH for GSH regeneration;loss leads to

hemolytic anemia;triggered w/ oxidizing agents: sulfas;

primaquine; fava beans;Heinz bodies - Hb

precipitates;prevalent in Af-Am;X-linked recessive


2544

Q1273:Fructose intolerance


2545

aldolase B deficiency;all phosphate accum in F1P;inhib

glycogenolysis/gluconeogenesis;hypoglycemia; jaundice;

cirrhosis;Rx: decrease fructose/sucrose


2546

Q1274:Galactose intolerance


2547

galactose-1P uridyltransferase def;accum of toxic

metabolites;cataracts;hepatosplenomegaly;mental

retardation;Rx: decrease galactose/lactose


2548

Q1275:Essential Amino Acids


2549

PVT TIM HALL;phe;val;trp;thr;ile;met;his;arg;leu;lys


2550

Q1276:Urea Cycle


2551

C from CO2 (mitochondria);N from NH4 (mitochondria);N

from aspartate (cytosol)


2552

Q1277:Phenylalanine derivatives


2553

Tyrosine; Dopa; DA; NE; Epi; Melanin; Thyroxine


2554

Q1278:Tryptophan derivatives


2555

Niacin (NAD; NADP);Serotonin;Melatonin


2556

Q1279:Histidine derivatives


2557

Histamine


2558

Q1280:Glycine derivatives


2559

Porphyrin/Heme


2560

Q1281:Arginine derivatives


2561

Creatine;Urea;Nitric Oxide


2562

Q1282:Homocytinuria


2563

defective cystathionine synthase or;defective methionine

synthase;cysteine become essential;mental

retardation;osteoporosis;lens subluxation;tall stature;kyphosis


2564

Q1283:Maple Syrup Urine Disease


2565

alpha ketoacid dehydrogenase def blocked degradation of

branched aa (Ile; Leu; Val = I Love Vt maple syrup);CNS

defects; mental retardation; death


2566

Q1284:Adenosine Deaminase Definiciency


2567

SCID;Excess dATP prevents production of other deoxyribose

nucleotides via ribonucleotide reductase;-> lymphopenia


2568

Q1285:Lesch-Nyhan Syndrome


2569

X-linked recessive;LNS (Lacks Nucleotide Salvage);HGPRT

deficiency -> dec IMP/GMP prod -> inc uric acid

excr;retardation;self-mutilation;aggression;hyperuricemia;

gout; choreoathetosis


2570

Q1286:Fatty Acid Metabolism


2571

Synthesis = cytosol;enters via citrate shuttle;degradation =

mitochondria;enters via carnitine shuttle


2572

Q1287:von Gierke's disease


2573

Glycogen storage disease type I;glucose-6Pase

deficiency;(liver becomes like muscle);severe fasting

hypoglycemia;glycogen accum in liver;Very


2574

Q1288:Pompe's disease


2575

Glycogen storage disease type II (trashes the pump);lysomal

alpha-1;4-glucosidase def;cardiomegaly;early death;Poor


2576

Q1289:Cori's Disease


2577

Glycogen storage disease type III;deficiency of debranching

enzyme;alpha-1;6-glucosidase;Carbohydrate


2578

Q1290:Glycogen storage disease type V


2579

McArdle's disease;muscle glycogen phosphorylase

def;glycogen in musc -> painful cramps;myoglobinuria w/

strenuous exercise;Metabolism


2580

Q1291:Ketone bodies


2581

acetoacetate and betahydroxybutyrate;made in liver from

HMG-CoA;excr in urine (test for acetoacetate);elevated in

starvation/DM ketoacidosis;fruity breath;converted to 2

AcetylCoA in brain


2582

Q1292:Insulin


2583

from pancreatic beta cells;inc glu uptake in

musc/liver/fat;GLUT2 R in beta cells;GLUT4 in

periphery;inhib glucagon from alpha cells;C-peptide cleaved -

> activation


2584

Q1293:Glucagon vs. Insulin


2585

Glucagon phosphorylates;turns OFF glycogen synthase;turns

ON glycogen phosphorylase;Insulin dephosphorylates;turns

ON glycagen synthase;turns OFF glycagen phosphorylase


2586

Q1294:Cholesterol synthesis and esterification


2587

HMG-CoA reductase is the rate limiting enzyme in

synthesis;inhib by Lovastatin ;Esterification via LCAT


2588

Q1295:Chylomicrons


2589

dietary TGs to peripheral tissues; dietary chol to liver;travel

in lymphatics to thoracic duct to blood;excess ->

xanthomas;Apo B48 mediates excretion;Apo CII for

lipoprotein lipase;Apo E mediates liver uptake


2590

Q1296:VLDL


2591

hepatic TGs to periphery;excess causes pancreatitis;apo

B100 mediates secr;apo CII for lipoportein lipase;apo E

mediates liver uptake


2592

Q1297:LDL


2593

produced via VLDL modification;hepatic cholesterol to

periphery;uptake via R-med endocytosis (Apo B100);excess

causes ATH; xanthomas;Bad for you


2594

Q1298:HDL


2595

periphery cholesterol to liver;repository for Apo C/E;Apo A-

1 for LCAT & chol-esters;Good for you


2596

Q1299:Familial Hypercholesterolemia


2597

Increased Cholesterol/LDL;Auto Dom defect in LDL

R;xanthomas;MI before 30y in homozygous pt


2598

Q1300:Familial Hypertriglyceridemia


2599

Increased TGs/VLDL;Hepatic overproduction of VLDL


2600

Q1301:Heme Synthesis


2601

Rate limiting step: glycine + succinyl CoA -> ALA via ALA

synthase;occurs w/in mitochondria;inhibition ->

porphyrias;Pb inhib other enzymes ->

microcytic/hypochromic anemia and porphyria


2602

Q1302:Heme catabolism


2603

scavenged from RBCs;heme -> biliverdin -> bilirubin;bilirubin

excr in bile;converted to urobilinogen;excreted as urobilin in

urine


2604

Q1303:Methemoglobinemia


2605

Fe in ferric (oxidized) state;low O2 affinity


2606

Q1304:Hb structure/affinity


2607

Cl; H; CO2; DPG; heat favor the T (taut) form over R

(relaxed);causes decreased O2 affinity


2608

Q1305:Vitamin A


2609

Retinol; in retinal pigment;deficiency: night blindness; dry

skin


2610

Q1306:Vitamin B1


2611

Thiamine; cofactor in pyruvate carboxylase ;deficiency:

Beriberi and Wernicke's encephalopathy


2612

Q1307:Vitamin B2


2613

Riboflavin; FAD/FADH2;deficiency: corneal vascularization;

cheilosis


2614

Q1308:Vitamin B3


2615

Niacin; NAD/NADH (from Trp);deficiency: Pellagra;caused

by carcinoid syndrome; INH; Hartnup Dz;Diarrhea;

Dermatitis; Dememtia


2616

Q1309:Vitamin B5


2617

Pantothenate -> Coenzyme A;FA synth; Kreb's

Cycle;deficiency: Dermatitis; Enteritis; Alopecia; adrenal

insufficiency


2618

Q1310:Vitamin B6


2619

Pyridoxine;Converted to Pyridoxal Phosphate;cofactor in

transamination (ALT/AST)


2620

Q1311:Biotin


2621

cofactor for carboxylation;1. pyruvate -> oxaloacetate;2.

acetyl CoA -> malonyl CoA;3. proprionyl CoA ->

methylmalonyl CoA


2622

Q1312:Folic Acid


2623

Coenzyme for 1-C transfer;methylation rxns for nitrogenous

bases;most common vitamin deficiency in US: macrocytic;

megaloblastic anemia


2624

Q1313:Vitamin B12


2625

Cobalamin;Cofactor for homocyteine methylation &

methylmalyonyl handling;Stored in liver;deficiency caused by:

malabsorption (sprue; enteritis; diphyllobothrium latum);

pernicious anemia; ileectomy;Dx: Schilling test


2626

Q1314:Vitamin C


2627

Ascorbic Acid;cofactor for hydroxylation of proline/lysine in

collagen;facilitates Fe adsorption by keeping it

reduced;Deficiency: scurvy = swollen gums; bruising; poor

healing


2628

Q1315:Vitamin D


2629

D2 absorbed from gut;D3 formed in skin;25OH D3 storage

form;1;25OH D3 active form;increases Ca/PO4

absorption;deficiency: rickets; osteomalacia; hypoCa

tetany;excess: hyperCa; stupor;caused by sarcoidosis

mphages producing active D3


2630

Q1316:Vitamin E


2631

antioxidant protects RBCs against hemolysis;increased

fragility of RBCs


2632

Q1317:Vitamin K


2633

synthesis of clotting factors II; VII; IX; X and Proteins

C/S;synth'd by intestinal flora;deficiency seen in broad-

spectrum ABx; warfarin use;inc PT; PTT; INR;Neonatal

hemorrhage


2634

Q1318:Ethanol Metabolism


2635

alcohol and acetaldehyde dehydrogenase produce NADH and

acetate;excess NADH shunts pyruvate away from

gluconeogenesis to lactate;leads to hypoglycemia and FA

synth (fatty liver)


2636

Q1319:Where does calcitonin work?


2637

Osteoclast inhibits bone reabsorption


2638

Q1320:What receptor does PTH hook on?


2639

Osteoblast


2640

Q1321:What does PTH releases?


2641

IL-1 Osteoclast activating factor


2642

Q1322:What keeps a check on IL-1?


2643

Testosteron and Estrogen


2644

Q1323:Why do women get osteoporosis?


2645

Menopausal Women; breaking bone down since IL-1 is not

checked


2646

Q1324:What enzyme is in the S.E.R. when you have increase

P-450?


2647

Gamma-glutamyl transferase;- key tests for alcoholics


2648

Q1325:Why does renal dz causes vitamin D deficiency?

Caused by Diabetes Mellitus


2649

no alpha-1-hydroxylase


2650

Q1326:Vitamin D from the store; what happens to it before it

becomes activate?


2651

25-OH D activated in the liver;- 1;25 OH D in kidneys by

alpha-hydroxylase


2652

Q1327:Hypervitaminosis D? What happens?


2653

Increase Calcium (hypercalcemia); more Calcium in urine

causing Stones.


2654

Q1328:Type I Vitamin D is what?


2655

Missing alpah-1-hydroxylase


2656

Q1329:What is wrong with Type II Vitamin D deficiency?


2657

Bad receptors


2658

Q1330:What is vitamin E main fuction?


2659

- Prevent lipid peroxidation of cell membranes;- protect

membrane from breaking down by phospholipid A;-

neutralizes oxidis LDL (makes it less injurious); i.e.

cardioprotective


2660

Q1331:Who gets Vitamine E deficiency?


2661

Cystic Fibrosis Patients


2662

Q1332:Does vitamin E deficiency cause hemolytic anemia?


2663

Yes! Susceptible to membrane damage (radical)


2664

Q1333:Does vitamin E help myelin?


2665

Yes! Problems neurologicly since they disrupt the membranes

in the brain. Spinalcerebellar Dz


2666

Q1334:What vitamin enhances the activity of warfarin?


2667

Vitamin E excess!


2668

Q1335:What changes k2(inactive) to k1?


2669

epoxide reductase ;k1 gamma carboxylates activates factors II;

VII; IX; X;hydroxylates proline and lisine;activates them so

they are fucntional


2670

Q1336:Warfarin does what?


2671

Blocks epoxide reductase; all vitamin K is K2 (inactive)


2672

Q1337:Vitamine K deficiency?


2673

Prolong Antibiotics;Poor Diets;New Borns


2674

Q1338:What amino acids stimulate Growth Hormone (GH)?


2675

Arganine and Histidine(Ornithine)


2676

Q1339:Symptoms of hypocortisolism?


2677

fasting hypoglycemia and fatigue;ACTH low;Corisol Low


2678

Q1340:Central Diabetes Insipidus;Causes?


2679

Car accident


2680

Q1341:Where is it made?


2681

Superoptic/Paraventricular Nucleus of hypothalamus


2682

Q1342:Where is ADH stored?


2683

Vassopressin (ADH) is stored in the posterior hypofisis


2684

Q1343:Signs and Symptoms of SIADH?


2685

-Thrist (polydypsia);- polyuria


2686

Q1344:Mechanisms of polyuria in DM?


2687

Osmotic Diuresis


2688

Q1345:Where is HMG CoA Synthase seen?


2689

Ketogenesis;Acetyl CoA ----> HMG CoA


2690

Q1346:What is involved in ketogenolysis (extrahepatic)?


2691

Hydroxybutyrate ----> Acetoacetate ---> Acetoacetyl CoA --

--> Acetyl CoA ----> Citric Acid Cycle


2692

Q1347:What is perceived as fruity odor?


2693

Acetone in the blood;Seen in prolonged fasting


2694

Q1348:What amino acid is used in starvation?


2695

Alanine


2696

Q1349:How long does glycogen storages last when you are

fasting?


2697

24 hours


2698

Q1350:When does protein degradation start?


2699

after 12-24 hours


2700

Q1351:How many days does it take for fat to become the

predominant source of glucose?


2701

1 week is the breaking point


2702

Q1352:When is the highest fat source for glucose? Week?

When are ketones at the highest level?


2703

After the 3rd week


2704

Q1353:G6PDH;Reactant and product


2705

Reactant: Glucose-6-P;Product: 6-phosphogluconate


2706

Q1354:G6PDH;cofactor


2707

NADP;(rxn: NADP ---> NADPH)


2708

Q1355:G6PDH;part of what pathway?


2709

Hexose monophosphate shunt


2710

Q1356:G6PDH;induced by


2711

insulin


2712

Q1357:G6PDH;activated by


2713

NADP (decrease in NADPH/NADP ratio)


2714

Q1358:G6PDH deficiency;inheritence


2715

XLR


2716

Q1359:G6PDH;major function


2717

Generate NADPH for anabolic purposes (EG: FA synthesis);

antimicrobial killing and protection of cells from reactive

oxygen species


2718

Q1360:Describe the role of NADPH in protecting against

ROS (particularly in RBCs)


2719

NADPH reduces oxidized Glutathionine (G-S-S-G) back to

its reduced form (2 GSH). GSH allows the enzyme

Glutathionine peroxidase to breakdown H202


2720

Q1361:G6PDH deficiency;3 key features


2721

-immunodeficiency (in severe disease);- Heinz bodies;-

hemolytic anemia


2722

Q1362:G6PDH deficiency;stressors that can acute hemolytic

anemia


2723

-ifn;-drugs (sulfas; chloroquine);-fava beans


2724

Q1363:G6PDH deficiency;Why can this condition lead to

immunodeficiency?


2725

NAPDH oxidase generates bactericidal superoxide. NADPH

deficiency inhibits this function.


2726

Q1364:CGD/NADPH deficiency;How can the diagnosis be

confirmed


2727

a NEGATIVE nitroblue tetrazolium test


2728

Q1365:HMG CoA reductase;location


2729

ER


2730

Q1366:HMG CoA reductase;activated by?


2731

insulin


2732

Q1367:HMG CoA reductase;;enzyme ACTIVITY is

inhibited by


2733

-glucagon;-statins


2734

Q1368:HMG CoA reductase;reaction


2735

HMG-CoA is converted to mevalonate


2736

Q1369:HMG CoA reductase;cholesterol effect on the enzyme


2737

Increased hepatic cholesterol represses expression and

enhances degradation


2738

Q1370:HMG CoA reductase;How does inhibition by statin

drugs decrease cholesterol levels?


2739

Inhibition by statins both decreases de novo synthesis and

enhances hepatic clearence of serum cholesterol by increased

LDLR expression


2740

Q1371:HMG CoA reductase;statins are _________ inhibitors


2741

competitive


2742

Q1372:DHFR;reaction it catalyzes


2743

Folate---->DHF--->THF


2744

Q1373:DHFR;eukaryotic inhibitior


2745

methotrexate


2746

Q1374:DHFR;prokaryotic inhibitors (2)


2747

-Trimethoprim;-pyrimethamine


2748

Q1375:DHFR;Most important downstream consequence of

inhibition?


2749

A block of DHFR function ultimately prevent synthesis of

thymidylate (thymidylate synthase is folate dependent)


2750

Q1376:how can ornithine transcarbamylase deficiency be

distinguished from orotic aciduria


2751

OTCD has hyperammonia and low BUN;Orotic aciduria has a

normal BUN


2752

Q1377:Orotic Aciduria;enzymatic causes


2753

- orotic acid phosphoribosyltransferase deficiency;OR;- OMP

decarboxylase deficiency


2754

Q1378:UDP-Glucuronyl transferase;key reaction


2755

Bilirubin + glucoronide ----> bilirubin-diglucoronide


2756

Q1379:UDP-Glucuronyl transferase;significance in neonates


2757

UDP-Glucuronyl transferase is the last enzyme expressed in

infants. Thus; neonates have increased susceptibility to

jaundice and kernicterus


2758

Q1380:Dubin-Johnson syndrome;characterized by


2759

black pigment in the liver due to impaired excretion of direct

bilirubin


2760

Q1381:Crigler-Najjar syndrome;define


2761

a severe UDP-Glucuronyl transferase deficiency


2762

Q1382:Gilbert Syndrome;define


2763

a benign UDP-Glucuronyl transferase deficiency


2764

Q1383:gamma-glutamyl carboxylase;rxn:


2765

glu -----> gamma gultamic acid


2766

Q1384:gamma-glutamyl carboxylase;function and substrate of

this rxn:


2767

gamma carboxylation of factors II; VII; IX; X and Protein

C&S generates Ca binding sites.


2768

Q1385:gamma-glutamyl carboxylase;dependent on?


2769

vit K


2770

Q1386:gamma-glutamyl carboxylase;inhibited by


2771

warfarin and dicoumarol


2772

Q1387:Warfarin;does this drug inhibit in vitro clotting?


2773

NO; warfarin's effect (vit K reductase inhibition) prvents in

vivo clotting by blocking clotting factor synthesis but has no

effect on existant factors.


2774

Q1388:gamma-glutamyl carboxylase;this reaction catalyzes

what type of modification


2775

cotranslational modification of clotting factors


2776

Q1389:Homocysteine methyltranferase;rxn:


2777

homocysteine ---> methionine


2778

Q1390:Homocysteine methyltranferase;cofactors:


2779

-N5-methyl THF;-methylcobalamin (B12)


2780

Q1391:mild homocysteinuria is associated with deficiencies is

what vitamins


2781

folate;B12;B6 (cystathionine synthase rxn)


2782

Q1392:mild homocysteinuria;symptoms


2783

-DVT;-stroke;-atherosclerosis


2784

Q1393:how can B12 deficiency be distinguished from folate

deficiency?


2785

B12 deficiency is associated with methylmalonic aciduria


2786

Q1394:name the 3 "ABC" carboxylases


2787

(ATP; Biotin; Co2);-propionyl-CoA carboxylase;-acetyl-CoA

carboxylase;-pyruvate carboxylase


2788

Q1395:Methylmalonyl-CoA mutase;rxn:


2789

Methylmalonyl-CoA ---> succinyl-CoA


2790

Q1396:Methylmalonyl-CoA mutase;cofactor:


2791

adeonsylcobalamin (B12)


2792

Q1397:Methylmalonyl-CoA mutase;deficiency results in:


2793

Methylmalonylic aciduria and peripheral neuropathy


2794

Q1398:Lesch-Nyhan Syndrome;inheritence:


2795

XLR


2796

Q1399:Lesch-Nyhan Syndrome;genetic cause:


2797

HGPRT deficiency


2798

Q1400:Lesch-Nyhan Syndrome;symptoms:


2799

-spastic cerebral palsy;-self-mutilation;-hyperuricemia;-early

death


2800

Q1401:6-Mercaptopurine is activated by


2801

HGPRT


2802

Q1402:Lesch-Nyhan Syndrome;pathophysiology


2803

Loss of the salvage pathways results in shunting of

Hypoxanthine and guanine to the excretion

pathway;Furthermore; loss of feedback inhibition of PRPP

admidotransferase results in additional purine synthesis;Thus;

HGPRT deficiency leads to crippling excesses of urate


2804

Q1403:HGRPT;rxn:


2805

hypoxanthine/guanine -----> IMP/GMP


2806

Q1404:Branched-chain Ketoacid DH;cofactors:


2807

TPP;Lipoic acid;CoA;FAD;NAD


2808

Q1405:Branched-chain Ketoacid DH;critical in the

metabolism of


2809

Valine;Leucine;Isoleucine


2810

Q1406:Branched-chain Ketoacid DH;associated disease:


2811

maple serup urine disease


2812

Q1407:maple serup urine disease;symptoms:


2813

-urine has a maple odor;-mental retardation;-abnormal muscle

tone;-ketosis;-coma;death


2814

Q1408:name the substances that enter the propionyl-CoA

pathway


2815

(VOMIT);Valine;Odd chain

FA;Methionine;Isoleucine;Threonine


2816

Q1409:Pyruvate DH;cofactors


2817

TPP;Lipoic Acid;CoA;FAD;NAD


2818

Q1410:Pyruvate DH;rxn:


2819

pyruvate------> acetyl CoA


2820

Q1411:Pyruvate DH;deficient in what population

(consequence)


2821

alcoholics due to thiamine deficiency (results in lactic

acidosis)


2822

Q1412:Pyruvate DH;inhibited by


2823

acetyl-CoA


2824

Q1413:PKU;genetic causes


2825

phenylalanine hyxdroxylase

deficiency;OR;tetrahydrobiopterin deficiency


2826

Q1414:Aspartame is contraindicated in what condition


2827

PKU


2828

Q1415:PKU;untreated symptoms


2829

-pale skin and white hair;-mental retardation;-loss of motor

control;-musty; mousy odor


2830

Q1416:PKU;-pathophysiology


2831

elevated phenylalanine has a neurotoxic effect


2832

Q1417:Phenylalanine hydroxylase;rxn


2833

phe ---> tyrosine


2834

Q1418:MCAD;function


2835

oxidation of medium chain FA


2836

Q1419:MCAD deficiency;symptoms


2837

-fasting hypoglycemia;- NO KETONES;-C8-10 acyl

carnitines in blood;-DICARBOXYLIC ACIDEMIA


2838

Q1420:Dicarboxylic acidemia is pathognomonic for


2839

MCAD deficiency


2840

Q1421:Topoisomerase II;inhibited by what drug class in

prokaryotes


2841

#NAME?


2842

Q1422:Topoisomerase II;function


2843

relieves positive supercoiling during DNA replication by

introducing negative supercoils


2844

Q1423:Topoisomerase II;target for what drugs in eukaryotes


2845

etoposide;teniposide


2846

Q1424:Excision endonuclease;function


2847

removal of intrastrand thymine dimers


2848

Q1425:Xerderma pigmentosum;defective gene


2849

excision endonuclease


2850

Q1426:Xerderma pigmentosum;symptoms


2851

extreme UV sensitivity;excessive freckling;multiple skin

cancers;corneal ulcerations


2852

Q1427:Carbamoyl-P Synthetase (CPS-I) deficiency


2853

- urea cycle defect;- condition: type I hyperammonemia;-

metabolites accumulated: ammonia; glutamine; alanine


2854

Q1428:Ornithine transcarbamoylase (OTC) deficiency


2855

- urea cycle defect;- condition: type II hyperammonemia;-

metabolites accumulated: ammonia; glutamine; orotate


2856

Q1429:Argininosuccinate synthetase deficiency


2857

- urea cycle defect;- condition: citrullinemia;- metabolites

accumulated: citrulline


2858

Q1430:Argininosuccinate lyase deficiency


2859

- urea cycle defect;- condition: argininosuccinic aciduria;-

metabolites accumulated: argininosuccinate


2860

Q1431:Arginase deficiency


2861

- urea cycle defect;- condition: hyperargininemia;- metabolites

accumulated: arginine


2862

Q1432:Maple Syrup Urine Disease


2863

- AR defect in branched-chain ketoacid dehydrogenase;- high

plasma & urine levels of branched-chain AA (leucine; valine;

isoleucine) and their corresponding alpha-keto acids and

alpha-hydroxyacids;- urine odor of maple syrup or burnt

sugar;- brain damage


2864

Q1433:strictly ketogenic AA


2865

leu; lys;degraded tp acetyl-CoA or acetoacetyl-CoA --> both

converted to ketone bodies


2866

Q1434:both ketogenic + glucogenic AA


2867

ile; phe; tyr; trp


2868

Q1435:strictly glucogenic AA


2869

all others


2870

Q1436:7 metabolic intermediates derived from AA


2871

acetyl-CoA;acetoacetyl-CoA;oxaloacetate;fumarate;succinyl-

CoA;alpha-keto glutarate;propionyl-CoA (converted to

succinyl-CoA)


2872

Q1437:AA that form pyruvate


2873

glycine; alanine; cysteine; serine; threonine; tryptophan


2874

Q1438:AA that form acetyl-CoA


2875

leucine; isoleucine


2876

Q1439:AA that form acetoacetyl-CoA


2877

leucine; lysine;phenylalanine; tryptophan; tyrosine


2878

Q1440:AA that form oxaloacetate


2879

asparagine; aspartate


2880

Q1441:AA that form fumarate


2881

tyrosine; phenylalanine


2882

Q1442:AA that form propionyl-CoA (then converted to

succinyl-CoA)


2883

isoleucine; methionine; threonine; valine


2884

Q1443:AA that form glutamate (then converted to alpha-

ketoglutarate)


2885

proline; arginine; histidine; glutamine


2886

Q1444:propionic aciduria


2887

2/2 deficiency of biotin; propionyl-CoA carboxylase;

holocarboxylase synthase; or the enzyme that covalentloy

attaches biotin to all carboxylases (in last case; additional

organic acids accumulate)


2888

Q1445:methylmalonic aciduria


2889

2/2 deficiency in vitamin B12 or defect in methylmalonyl-

CoA mutase;some pts respond well to megadose of vit B12


2890

Q1446:pyridoxal phosphate


2891

derivative of pyridoxine (vit B6);acts as coenzyme for all

transaminases


2892

Q1447:CPS-1 activation


2893

high protein diet --> glutamate accumulation --> increase in

NAG --> CPS-1 activation


2894

Q1448:arginase found only in


2895

brain; liver; kidney


2896

Q1449:amino groups in muscle


2897

transferred to pyruvate to form alanine --> dumped into

circulation --> picked up by liver; where it is converted back

to pyruvate


2898

Q1450:liver uses pyruvate for


2899

gluconeogenesis


2900

Q1451:liver uses amino groups for


2901

urea synthesis


2902

Q1452:phenylketonuria (PKU)


2903

deficiency in phenylalanine hydroxylase or dihydrobiopterin

reductase;buildup of phenylalanine; phenylpyruvate;

phenylacetate; phenyllactate in blood and urine;**tyrosine

becomes an essential AA**


2904

Q1453:PKU Sx


2905

musty body odor;MR


2906

Q1454:dihydrobiopterin reductase deficiency


2907

PKU + impairment of catecholamine and serotonin synthesis


2908

Q1455:PKU Tx


2909

remove phenylalanine from diet (incl NutraSweet)


2910

Q1456:NutraSweet


2911

dipeptide containing phenylalanine + aspartic acid


2912

Q1457:precursor for tyrosine


2913

phenylalanine


2914

Q1458:sulfur for cysteine synthesis comes from


2915

methionine


2916

Q1459:if phenylalanine deficient in diet


2917

tyrosine becomes essential AA


2918

Q1460:if methionine essential in diet


2919

cysteine becomes essential AA


2920

Q1461:elevated plasma homocysteine is risk factor for


2921

coronary heart disease;independent of risk associated with

elevated cholesterol


2922

Q1462:homocystinuria


2923

large amts. homocystine in urine;acquired or inherited;most

often seen in children with FTT; lens displacement


2924

Q1463:causes of homocystinuria


2925

deficiency in pyridoxine; folate; or vitamin B12;OR;inherited

defect in either cystathionine synthase or methionine

synthase;all above result in accumulation of homocysteine;

which is readily oxidized to its disulfide form; homocystine


2926

Q1464:homocystine


2927

disulfide form of homocysteine


2928

Q1465:cysthathionuria


2929

2/2 deficiency in pyridoxine or from genetic defect in

cystathionase;large amts. cystathionine found in urine + blood


2930

Q1466:Parkinson dz: cause


2931

decreased dopamine in substantia nigra


2932

Q1467:Parkinson prevalence


2933

1% of pop > 55yrs


2934

Q1468:Parkinson Sx


2935

tremors; postural instability; rigidity; bradykinesia


2936

Q1469:Parkinson Tx


2937

L-dopa + carbidopa


2938

Q1470:Carbidopa


2939

decreases extra-CNS effects of L-dopa;selectively inhibits

aromatic acid decarboxylase outside CNS;does not cross BBB

so does not inhibit conversion of L-dopa --> dopamine


2940

Q1471:carcinoid tumors


2941

neoplastic transformation of enterochromaffin cells;secrete

excess serotonin;high levels of 5-HI in urine


2942

Q1472:nitroglycerin and other angina tx


2943

act in part to spontaneously generate nitric oxide


2944

Q1473:porphyria


2945

any abnormality in pathway of heme synthesis;block early in

pathway: intermediates buildup & are excreted in urine;block

late in pathway: excreted in urine + feces; accumulate in skin


2946

Q1474:lead poisoning and heme synthesis


2947

lead poisoning can be considered acquired porphyria b/c

inhibits ALA DEHYDRATASE and HEME SYNTHASE

(FERROCHELATASE)


2948

Q1475:4 broad causes of hyperbilirubinemia


2949

massive hemolysis;block in heme catabolism;bile

obstruction;liver damage;always jaundice


2950

Q1476:anabolism


2951

build stuff (need energy)


2952

Q1477:What a.a. is the smallest?


2953

Glycine


2954

Q1478:What a.a. is involved in gluconeogenesis?


2955

Alanine


2956

Q1479:What a.a. are branched?


2957

Valine;Leucine;Isoleucine;I Saw Lucy and Val(erie) Like syrup


2958

Q1480:What a.a. bends proteins?


2959

Proline


2960

Q1481:What a.a. is converted to tyrosine?


2961

Phenylalanine


2962

Q1482:What is made with Tyrosine? 3 things;


2963

1) Catecholamines (NE; Epi);2) Thyroid T3/T4;3) Melanin


2964

Q1483:What causes Hartnup Dz?


2965

Tryptophan ;tryp up the esophagus


2966

Q1484:What coenzyme is needed to degrade tryptophan?


2967

Niacin


2968

Q1485:What deffect do you see when you have Niacin

defiency?


2969

Pellagra


2970

Q1486:What are the symptoms of pellagra?


2971

Diarrhea;Dermatitis;Dementia


2972

Q1487:What are the basic a.a.?


2973

HAL;Histidine;Alaline;Lysine


2974

Q1488:What two a.a. are acidic?


2975

Aspartate;Glutamate;aspartic acid; glutamic acid


2976

Q1489:What a.a. have OH in htem?


2977

Serine;Threonine


2978

Q1490:Valine is a branched a.a. what happens glutamate is

changed to val?;glutamate ----> valine


2979

Sickle Cell Anemia;Missense mutation;anemia sickle


2980

Q1491:What happens when there is a deletion of

phenylalanine at position 508?


2981

Cystic Fibrosis;Chromosome seven;problem in folding

proteins


2982

Q1492:Why is cysteine important?


2983

Because it produces S-thiol and is the Tx for Acetaminophen

Toxicity;NO+ guanylate cyclase increasing cGMP


2984

Q1493:Why is methionine important?


2985

Makes AUG; SAM;initiate transcription;methylates in SAM


2986

Q1494:WHat is asparagine famous for?


2987

N.glycosylation in E.R. mannose to protein


2988

Q1495:WHat is glutamine used for?


2989

NH3 donor;Amonia


2990

Q1496:WHat a.a. is need in positve nitrogen balance?


2991

Arginine


2992

Q1497:When does positive nitrogen balance occur?


2993

Growth;Pregnancy;Recovery from injury or surgery;Recovery

from Negative Nitrogen Balance


2994

Q1498:When does negative nitrogen balance?


2995

Protein Malnutrition (Kwashiorkor);Starvation

(Marasmus);DM uncontrolled;Infection;Diet Defficient of

essential a.a.


2996

Q1499:What is the enzyme deficiency in Von Gierke's disease

(Type I)?


2997

Glucose-6-phosphatase


2998

Q1500:What is the enzyme deficiency in Pompe's disease

(Type II)?


2999

Lysosomal alpha-1;4-glucosidase


3000

Q1501:What is the enzyme deficiency in Cori's disease (Type

III)?


3001

Debranching enzyme alpha-1;6-glucosidase


3002

Q1502:What is the enzyme deficiency in McArdle's disease

(Type V)?


3003

Skeletal muscle glycogen phosphorylase


3004

Q1503:What is the enzyme deficiency in Andersen's disease

(Type IV)?


3005

Glycogen branching enzyme amylo-1;4-1;6-transglucosidase


3006

Q1504:What is the enzyme deficiency in Tarui's disease

(Type VII)?


3007

Skeletal muscle PFK-1


3008

Q1505:What are the findings in Von Gierke's disease (Type I)

(6)?


3009

Severe fasting hypoglycemia;Increased glycogen in liver;Thin

extremities; chubby facies;Fatty liver;Renal disease;Growth

retardation; delayed puberty


3010

Q1506:What are the findings in Pompe's disease (Type II)

(4)?


3011

Cardiomegaly;Early death;Normal blood glucose;"Trashes the

pump" (heart; liver; muscle)


3012

Q1507:What are the findings in Cori's disease (Type III) (3)?


3013

Hypoglycemia;Failure to thrive;Hepatomegaly


3014

Q1508:What are the findings in McArdle's disease (Type V)

(3)?


3015

Increased glycogen in muscle (can't break it down);Paimful

cramps;No rise in lactate w/ exercise


3016

Q1509:What are the findings in Tarui's disease (Type VII)

(4)?


3017

Like McArdle's;Nausea and vomiting;Acute exacerbation after

high-carb meal;Hyperuricemia and hyperbilirubinemia


3018

Q1510:What are the findings in Andersen's disease (Type IV)

(4)?


3019

Glycogen with unbranched chains in tissue;Resembles

amylopectin;Failure to thrive;Hepatosplenomegaly


3020

Q1511:How do you treat Von Gierke's disease (Type I)?


3021

Nocturnal glucose; uncooked corn starch


3022

Q1512:What is/are the MAJOR REGULATORY ENZYME

of the citric acid cycle?


3023

Citrate synthase


3024


of glycolysis?


3025

Phosphofructokinase-1


3026


of pyruvate oxidation?


3027

Pyruvate dehydrogenase


3028

Q1515:What is/are the MAJOR REGULATORY ENZYMES

of gluconeogenesis (3)?


3029

Pyruvate carboxylase;Phosphoenolpyruvate

carboxykinase;Fructose-1;6-bisphosphatase


3030


of glycogenesis?


3031

Glycogen synthase


3032


of glycogenolysis?


3033

Glycogen phosphorylase


3034


of the pentose phosphate pathway?


3035



3036


of cholesterol synthesis?


3037

HMG-CoA reductase


3038


of lipogenesis?


3039

Acetyl-CoA carboxylase


3040

Q1521:What are the major ACTIVATORS of

phosphofructokinase-1 (3)?


3041

AMP;Fructose-2;6-bisphosphate (liver);Fructose-1;6-

bisphosphate (muscle)


3042

Q1522:What are the major ACTIVATORS of pyruvate

dehydrogenase (4)?


3043

CoA;NAD;ADP;Pyruvate


3044

Q1523:What is the major ACTIVATOR of pyruvate

carboxylase and phosphoenolpyruvate carboxykinase?


3045

Acetyl-CoA


3046

Q1524:What is the major ACTIVATOR of fructose-1;6-

bisphosphatase?


3047

cAMP


3048

Q1525:What are the major ACTIVATORS of glycogen

phosphorylase (2)?


3049

cAMP;Ca2+ (muscle)


3050

Q1526:What is the major ACTIVATOR of glucose-6-

phosphate dehydrogenase?


3051

NADP+


3052

Q1527:What is the major ACTIVATOR of acetyl-CoA

carboxylase


3053

Citrate


3054

Q1528:What are the INHIBITORS of citrate synthase (2)?


3055

ATP;Long-chain acyl-CoA


3056

Q1529:What are the INHIBITORS of phosphofructokinase-1

(3)?


3057

Citrate (fatty acids; ketone bodies);ATP;cAMP


3058

Q1530:What are the INHIBITORS of pyruvate

dehydrogenase (3)?


3059

Acetyl-CoA;NADH;ATP (fatty acids; ketone bodies)


3060

Q1531:What is the INHIBITOR of pyruvate carboxylase and

phosphoenolpyruvate carboxykinase?


3061

ADP


3062

Q1532:What are the INHIBITORS of fructose-1;6-

bisphosphatase (2)?


3063

AMP;Fructose-2;6-bisphosphatase


3064

Q1533:What are the INHIBITORS of glycogen synthase (3)?


3065

Phosphorylase (liver);cAMP (muscle);Ca2+ (muscle)


3066

Q1534:What is the INHIBITOR of glucose-6-phosphate

dehydrogenase?


3067

NADPH


3068

Q1535:What are the INHIBITORS of acetyl-CoA

carboxylase (2)?


3069

Long-chain acyl-CoA;cAMP


3070

Q1536:What are the INHIBITORS of HMG-CoA reductase

(2)?


3071

Cholesterol;cAMP


3072

Q1537:What two rate-limiting enzymes are INHIBITED by

long-chain acyl-CoA?


3073

Citrate synthase;Acetyl-CoA carboxylase


3074

Q1538:What two rate-limiting enzymes are ACTIVATED by

cAMP?


3075

Fructose-1;6-bisphosphatase;Glycogen phosphorylase


3076

Q1539:What is Type I Familial Dyslipidemia?


3077

hyperchylomicronemia


3078

Q1540:What is Type IIa Familial Dyslipidemia?


3079

hypercholesterolemia


3080

Q1541:What is Type IIb Familial Dyslipidemia?


3081

combined hyperlipidemia


3082

Q1542:What is Type III Familial Dyslipidemia?


3083

dysbetalipoproteinemia


3084

Q1543:What is Type IV Familial Dyslipidemia?


3085

hypertriglyceridemia


3086

Q1544:What is Type V Familial Dyslipidemia?


3087

mixed hypertriglyceridemia


3088

Q1545:What is the INHERITANCE of Type IIa Familial

dyslipidemia? (hypercholesterolemia)


3089

autosomal dominant


3090

Q1546:What is INCREASED in Type I Familial

Dyslipidemia?


3091

chylomicrons


3092

Q1547:What is INCREASED in Type IIa Familial

Dyslipidemia (hypercholesterolemia)?


3093

LDL


3094

Q1548:What is INCREASED in Type Iib Familial

Dyslipidemia (combined hyperlipidemia)?


3095

LDL; VDL


3096

Q1549:What is INCREASED in Type III Familial

Dyslipidemia (dysbetalipoproteinemia)?


3097

IDL; VLDL


3098

Q1550:What is INCREASED in Type IV Familial

Dyslipidemia (hypertriglyceridemia)?


3099

VLDL


3100

Q1551:What is INCREASED in Type V Familial

Dyslipidemia (mixed hypertriglyceridemia)?


3101

VLDL; chylomicrons


3102

Q1552:Type I hyperchylomicronemia ELEVATED BLOOD

LEVELS?


3103

TG; cholesterol


3104

Q1553:Type IIa hypercholesterolemia ELEVATED BLOOD

LEVELS?


3105

cholesterol


3106

Q1554:Type IIb combined hyperlipidemia ELEVATED

BLOOD LEVELS?


3107

TG; cholesterol


3108

Q1555:Type III dysbetalipoproteinemia ELEVATED

BLOOD LEVELS?


3109

TG; cholesterol


3110

Q1556:Type IV hypertriglyceridemia ELEVATED BLOOD

LEVELS?


3111

TG


3112

Q1557:Type V mixed hypertriglyceridemia ELEVATED

BLOOD LEVELS?


3113

TG; cholesterol


3114

Q1558:Type I hyperchylomicronemia

PATHOPHYSIOLOGY?


3115

Lipoprotein lipase deficiency; or altered apolipoprotein C-II

(co-factor for lipoprotein lipase)


3116

Q1559:Type IIa hypercholesterolemia

PATHOPHYSIOLOGY?


3117

DECREASE LDL receptors


3118

Q1560:Type IIb combined hyperlipidemia

PATHOPHYSIOLOGY?


3119

hepatic OVERPRODUCTION of VLDL


3120

Q1561:Type III dysbetalipoproteinemia

PATHOPHYSIOLOGY?


3121

ALTERED apolipoprotein E


3122

Q1562:Type IV hypertriglyceridemia

PATHOPHYSIOLOGY?


3123

hepatic OVERPRODUCTION of VLDL


3124

Q1563:Type V mixed hypertriglyceridemia

PATHOPHYSIOLOGY?


3125

INCREASE production/DECREASE clearance of VLDL and

chylomicrons


3126

Q1564:Vit A too much


3127

arthralgias; fatigue; headache; skin changes; sore throat;

alopecia


3128

Q1565:dry beriberi


3129

polyneuritis; muscle wasting


3130

Q1566:wet beriberi


3131

dilated cardiomyopathy; edema


3132

Q1567:B2 deficiency


3133

angular stomatitis; cheilosis; corneal vascularization


3134

Q1568:B3 deficiency


3135

pellagra; diarrhea; dermatitis; dementia; beefy glossitis.


3136

Q1569:causes of pellegra


3137

hartnup disease (dec tryptophan absorbtion); malignant

carcinoid syndrome (increased trypophan metabolism); and

INH (decreased B6)


3138

Q1570:B5 deficiency


3139

dermatitis; enteritis; alopecia; adrenal insufficiency.


3140

Q1571:B6 deficiency


3141

convulsions; hyperirritability; peripheral neuropathy.


3142

Q1572:Sources of B6 deficiency


3143

INH; oral contraceptives.


3144

Q1573:B12 function


3145

Homocysteine + N-methyl THF (B12) to Methionine +

THF; Methylmalonyl-CoA (B12) to Succinyl-CoA


3146

Q1574:causes of B12 defiency


3147

malabsorption (sprue; enteritis; Diphyllobothrium latum);

lack of IF (pernicious anemia); or absence of terminal ileum

(chron's)


3148

Q1575:folic acid precursor in bacteria and use


3149

PABA - sulfa drugs and dapsone are PABA analogs.


3150

Q1576:biotin deficiency


3151

dermatitis; enteritis


3152

Q1577:causes of biotin defiency


3153

antibiotic use; ingestion of raw eggs


3154

Q1578:vit c deficiency


3155

scurvy - swollen gums; bruising; anemia; poor wound healing.


3156

Q1579:vit c 3 mech


3157

hydroxylation of proline and lysine in collagen synthesis;

facilitates iron absorption by keeping iron in Fe+2 reduced

state; necessary as a cofactor for Dopamine to NE


3158

Q1580:Types of Vit D


3159

D2 - ergocalciferol; in milk; D3 - cholecalciferol; sun exposed

skin; 25-OH D3 - storage form; 1;25 (OH)2 D3 active form.


3160

Q1581:Vit D def


3161

Rickets kids (bending bones); osteomalacia in adults (soft

bones) and hypocalcemic tenatny


3162

Q1582:Vit D function


3163

increases Ca and Phosphate aborption.


3164

Q1583:Vit D excess


3165

Hypercalcemia; loss of appetitie; stupor. Sarcoid - epitheliod

macrophages convert Vit D into its active form.


3166

Q1584:Vit E def


3167

increases fragility of EEErythrocytes; neurodysfunction


3168

Q1585:Vit E function


3169

antioxidant (protects erythrocytes from hemolysis.


3170

Q1586:sxs and causes of Vit K def


3171

neonatal hemorrhage with increased PT/aPTT but normal

bleeding times - sterile intestine cant make Vit K


3172

Q1587:Vit K dependent factors


3173

2;7;9;10


3174

Q1588:Vit K antagonist


3175

warfarin


3176

Q1589:Vit K function


3177

Catalyzes (gamma)-carboxylation of glutamic acid residues on

various proteins concerned with blood clotting.


3178

Q1590:Zinc deficiency


3179

Delayed wound healing; hypogonadism; dec adult hair; may

predispose to alcoholic cirrhosis.


3180

Q1591:ETOH metabolism


3181

ETOH (alcohol dehydrogenase) to acetaldehyde (acetaldehyde

dehydrogenase) to acetate. Both require NAD+ which goes to

NADH


3182

Q1592:ETOH met rate limiting reagent


3183

NAD+


3184

Q1593:alcohol dehydrogenase kinetics


3185

zero order


3186

Q1594:Antabuse mech


3187

inhibits acetaldehyde dehydrogenase


3188

Q1595:EtOH hypoglycemia


3189

ETOH metabolism increases NADH/NAD+ ratio in liver -

pyruvate to lactate and OAA to malate - inhibits

gluconeogensis and thus hypoglycemia - fatty acid synthesis -

hepatocellular steatosis (hepatic fatty change)


3190

Q1596:Kwashiorkor


3191

MEAL - malabsorption; edema; anemia; liver (fatty) - protein

malnutrition


3192

Q1597:Marasmus


3193

energy malnutrition - tissue and muscle wasting; loss of

subcut fat; variable edema


3194

Q1598:Von Gierke's disease;Deficient enzyme


3195

glucose-6-phosphatase


3196

Q1599:Von Gierke's disease;Findings


3197

Type I glycogen storage disease;Severe fasting hypoglycemia;

increased glycogen in liver; increased blood lactate;

hepatomegaly


3198

Q1600:Pompe's disease;Deficient enzyme


3199

Lysosomal alpha-1-4-glucosidase (acid maltase)


3200

Q1601:Pompe's disease;Findings


3201

Type II glycogen storage disease;Cardiomegaly and systemic

findings leading to early death;Pompe's trashes the Pump

(heart; liver and muscle)


3202

Q1602:Cori's disease;Deficient enzyme


3203

Debranching enzyme; alpha-1;6-glucosidase


3204

Q1603:Cori's disease;Findings


3205

milder form of type I (Von Gierke's disease) with normal

blood lactate levels;Gluconeogenesis is intact


3206

Q1604:McArdle's disease;Deficient enzyme


3207

Skeletal muscle glycogen phosphorylase


3208

Q1605:McArdle's disease;Findings


3209

increased glycogen in muscle; but cannot break it down;

leading to painful muscle cramps; myoglobinuria with

strenuous exercise;McArdles: think MUSCLE


3210

Q1606:Fabry's disease;Deficient enzyme


3211

Sphingolipidoses;alpha-galactosidase A;X-linked recessive!!!


3212

Q1607:Fabry's disease;accumulated substrate


3213

ceramide trihexoside;X-linked recessive!!!


3214

Q1608:Fabry's disease;Findings


3215

peripheral neuropathy of hands/feet; angiokeratomas;

cardiovascular/renal disease;X-linked recessive!!!


3216

Q1609:Gaucher's disease;Deficient enzyme


3217

beta-glucocerebrosidase!!;AR


3218

Q1610:Gaucher's disease;Accumulated substrate


3219

Glucocerebroside


3220

Q1611:Gaucher's disease;Findings


3221

AR!!;hepatosplenomegaly; aseptic necrosis of the femur;

bone crises; Gaucher's cells (macrophages that look like

crumpled paper)


3222

Q1612:Niemann-Pick disease;Deficient enzyme


3223

Sphingomyelinase


3224

Q1613:Niemann-Pick disease;Accumulated substrate


3225

Sphingomyelin;AR


3226

Q1614:Niemann-Pick disease;Findings


3227

progressive neurodegeneration; hepatosplenomegaly; cherry-

red-spot (on macula); foam cells;AR!


3228

Q1615:Tay-Sachs disease;Deficient enzyme


3229

hexosaminidase


3230

Q1616:Tay-Sachs disease;Accumulated substrate


3231

GM2 ganglioside;AR


3232

Q1617:Tay-Sachs disease;Findings


3233

progressive neurodegeneration; developmental delay; cherry-

red spot; lysosomes with onion skin!!


3234

Q1618:Krabbe's disease;Deficient enzyme


3235

Galactocerebrosidase;AR


3236

Q1619:Krabbe's disease;Accumulated substrate


3237

galactocerebroside


3238

Q1620:Krabbe's disease;Findings


3239

peripheral neuropathy; developmental delay; optic atrophy;

globoid cells


3240

Q1621:Metachromic leukodystrophy;Deficient enzyme


3241

Arylsulfatase A


3242

Q1622:Metachromic leukodystrophy;Accumulated substrate


3243

Cerebroside sulfate


3244

Q1623:Metachromic leukodystrophy;Findings


3245

Central and peripheral demyelination with ataxia; dementia


3246

Q1624:Mucopolysaccharidoses


3247

Hurler's syndrome and Hunter's syndrome


3248

Q1625:Hurler's syndrome;Deficient enzyme


3249

alpha-L-iduronidase


3250

Q1626:Hurler's syndrome;accumulated substrate


3251

heparan sulfate; dermatan sulfate


3252

Q1627:Hurler's syndrome;Findings


3253

developmental delay; gargoylism; airway obstruction; corneal

clouding; hepatosplenomegaly


3254

Q1628:Hunter's syndrome;Deficient enzyme


3255

Mucopolysaccharidoses;iduronate sulfatase


3256

Q1629:Hunter's syndrome;Accumulated substrate


3257

heparan sulfate; dermatan sulfate


3258

Q1630:Hunter's syndrome;Findings


3259

XR!!!;mild-Hurler's (developmental delay; gargoylism; airway

obstruction; corneal clouding; hepatosplenomegaly) with

aggressive behavior; NO corneal clouding


3260

Q1631:What are the FINDINGS in Fabry's disease?


3261

1. peripheral neuropathy of hands/feet;2. angiokeratomas;3.

cardiovascular/renal disease


3262

Q1632:What are the FINDINGS in Gaucher's disease?


3263

1. hepatosplenomegaly;2. asceptic necrosis of femur;3. bone

crises;4. Gaucher's cells (macrophages)


3264

Q1633:What are the FINDINGS in Niemann-Pick disease?


3265

1. progressive neurodegeneration;2. hepatosplenomegaly;3.

cherry red spot (on macula)


3266

Q1634:What are the FINDINGS in Tay-Sachs disease?


3267

1. progressive neurodegeneration;2. developmental delay;3.

cherry-red spot;4. lysozymes with onion skin


3268

Q1635:What are the FINDINGS in Krabbe's disease?


3269

1. peripheral neuropathy;2. developmental delay;3. optic

atrophy


3270

Q1636:What are the FINDINGS in Metachromatic

leukodystrophy disease?


3271

1. Central and peripheral demyelination;2. ataxia;3. dementia


3272

Q1637:What are the FINDINGS in Hurler's Syndrome?


3273

1. Developmental delay;2. gargoylism;3. airway obstruction;4.

corneal clouding;5. hepatosplenomegaly


3274

Q1638:What are the FINDINGS in Hunter's Syndrome?


3275

1. aggressive behavior;2. NO corneal clouding;3. Mild

Hurler's;4. developmental delay;5. gargoylism;6. airway

obstruction;7. hepatosplenomegaly


3276

Q1639:What is the DEFICIENT ENZYME in Fabry's

disease?


3277

alpha-galactosidase A


3278

Q1640:What is the DEFICIENT ENZYME in Gaucher's

disease?


3279

beta-glucocerebrosidase


3280

Q1641:What is the DEFICIENT ENZYME in Niemann-Pick

disease?


3281

sphingomyelinase;"NO MAN PICKS (NIEMANN-PICK)

his nose with his SPHINGER (SPHINGOMYELINASE)."


3282

Q1642:What is the DEFICIENT ENZYME in Tay-Sach's

disease?


3283

Hexosaminidase A;;"Tay-SaX (TAY-SACHS) lacks

heXosaminidase."


3284

Q1643:What is the DEFICIENT ENZYME in Krabbe's

disease?


3285

beta-galactosidase


3286

Q1644:What is the DEFICIENT ENZYME in Metachromatic

Leukodystrophy disease?


3287

Arylsulfatase A


3288

Q1645:What is the DEFICIENT ENZYME in Hurler's

syndrome?


3289

alpha-L-iduronidase


3290

Q1646:What is the DEFICIENT ENZYME in Hunter's

syndrome?


3291

Iduronate sulfatase


3292

Q1647:What is the ACCUMULATED SUBSTRATE in

Fabry's disease?


3293

Ceramide trihexoside


3294


Gaucher's disease?


3295

glucocerebroside


3296


Niemann-Pick disease?


3297

Sphingomyelin


3298


Tay-Sachs disease?


3299

GM2 ganglioside


3300


Krabbe's disease?


3301

Galactocerebroside


3302


Metachromatic Leukodystrophy?


3303

Cerebroside sulfate


3304


Hurler's syndrome?


3305

1. Heparan sulfate;2. Dermatan sulfate


3306


Hunter's syndrome?


3307

1. Heparan sulfate;2. Dermatan sulfate


3308

Q1655:What is the INHERITANCE of Fabry's disease?


3309

XLR


3310

Q1656:What is the INHERITANCE of Gaucher's disease?


3311

AR


3312

Q1657:What is the INHERITANCE of Niemann-Pick

disease?


3313

AR


3314

Q1658:What is the INHERITANCE of Tay Sach's disease?


3315

AR


3316

Q1659:What is the INHERITANCE of Krabbe's disease?


3317

AR


3318

Q1660:What is the INHERITANCE of Metachromatic

Leukodystrophy disease?


3319

AR


3320

Q1661:What is the INHERITANCE of Hurler's syndrome?


3321

AR


3322

Q1662:What is the INHERITANCE of Hunter's syndrome?


3323

XLR;;"HUNTERS aim for the X";(XLR)


3324

Q1663:What lysosomal storage dz has renal failure?


3325

Fabry


3326

Q1664:What lysosomal dz has optic atrophy; spasticity and

early death?


3327

Krabbe


3328

Q1665:Lysosomal Dz that is compatible with a normal life

usually?


3329

Gaucher's Dz


3330

Q1666:Lysosomal Dz w/ increase in sphingomyelin and

cholesterol in reticuloendothelial and parenchymal cells?


3331

Niemann-Pick Dz


3332

Q1667:What lysosomal Dz has cherry-red spot on macula?


3333

Tay-Sachs Dz;Take them in the Sack (the cherries)


3334

Q1668:What lysosomal Dz has accumulation of sulfatide in

brain; kidney; liver and peripheral nerves?


3335

Metachromatic Leukodystrophy


3336

Q1669:What enzyme is deficient in Fabry's Dz?


3337

alfa-galactosidase


3338

Q1670:What accumulates in Fabry's Dz?


3339

ceramide trihexoside


3340

Q1671:What mode of inheritane is Fabry's Dz?


3341

X-linked


3342

Q1672:What enzyme is deficient in Krabbe's?


3343

beta-galactosidase


3344

Q1673:What accumulates in Krabbe?


3345

beta-galactocerebroside


3346

Q1674:What enzyme is deficient in Krabbe?


3347

beta-galatosidase


3348

Q1675:What enzyme is deficient in Gaucher's Dz?


3349

beta-Glucocerebrosidase


3350

Q1676:What accumulates in Gaucher's?


3351

glucocerebroside


3352

Q1677:What enzyme is deficient in Niemann-Pick?


3353

Sphyngomyelinase


3354

Q1678:What accumulates in Neimann-Pick's?


3355

sphingomyelin and cholesterol


3356

Q1679:What enzyme is deficient in Tay-Sachs?


3357

Hexosaminidase A


3358

Q1680:WHat accumulates in Tay-Sach's Dz?


3359

GM2 ganglioside


3360

Q1681:What enzyme is deficient in Metachromatic

Leukodystrophy?


3361

ArylSulfatase A


3362

Q1682:What accumulates in Metachromatic

Leukodystrophy?


3363

Sulfatide


3364

Q1683:What enzyme is deficient in Hurler's Sx?


3365

alpha-L-iduronidase


3366

Q1684:What accumulates in Hurler's Sx?


3367

Increase in dermatan sulfate


3368

Q1685:What enzyme is deficient in Hunter's?


3369

iduronate sulfatase


3370

Q1686:What accumulates in Hunter's?


3371

Heparan Sulfate


3372

Q1687:What are the two Lysosomal Storage Dz that are X-

linked?


3373

Fabry's X and Hunter's X


3374

Q1688:What lysosomal Dz has corneal clouding and mental

retardation?


3375

Hurler's Sx


3376

Q1689:What lysosomal Dz has mild mental retardation?


3377

Hunter's Sx;the hunter needs to see what he is shooting; So

NO corneal clouding;


3378

Q1690:What lysosomal Dz has gargoyle facies?


3379

Hurler's Dz


3380

Q1691:What lysosomal dz has flaring of the distal femur?

(Like Erlehnmeyer Flask)


3381

Gaucher's Dz


3382

Q1692:What two lysosomal Dz are associated with Jews?


3383

Tay-Sach's and Gaucher's Dz


3384

Q1693:Hormones dived into?


3385

Water soluble;Lipid Soluble


3386

Q1694:Water solubles have receptor where?


3387

Membrane Receptor


3388

Q1695:WHere is the receptor in lipid soluble hormones?


3389

Inside the cell


3390

Q1696:What hormones require phosphorylation?


3391

Water Soluble


3392

Q1697:How is gene expression controlled in Water Soluble?


3393

cAMP response element binding (CREB) protein


3394

Q1698:What proteins are used in Water Soluble Hormones?


3395

Leucine Zipper


3396

Q1699:What protein is used for Lipid Soluble Hormones?


3397

Zinc Finger Protein


3398

Q1700:What are the water soluble hormones?


3399

Insulin ;Glucagon;Catecholamines (NE; EPi)


3400

Q1701:What are examples of lipid soluble?


3401

Steroids;Calcitriol ---> Vit D;Thyroxines (thinks is

steroid);Retinoic Acid ----> Vit A.


3402

Q1702:What do you think of with watersoluble hormones?


3403

Male;Receptor Outside (penis);Zipper (Leucine Zipper)


3404

Q1703:WHat do you think of with Lipid Soluble hormones?


3405

Female;Receptor Inside;Zinc Finger Protein


3406

Q1704:What receptors use Glucagon and Epinephrine?


3407

cAMP pathway


3408

Q1705:What are all the messenger involved in cAMP?


3409

Gs Adenylate Cyclase ----> Protein Kinase ;Gi alpha2 beta2

2MAD


3410

Q1706:What are pathway is used in Vasopressin and

Epinephrine (alpha 1)?


3411

PIP2;PIMP


3412

Q1707:Gq involves?


3413

HAMMV (hummer);Gq magazine;Think C or

K;Phospholipase C;Protein kinase C;DAG; IP3; Ca+


3414

Q1708:What pathway does Atrial Natriuretic Factor (ANF)

and Nitric Oxide (NO) use?


3415

cGMP


3416

Q1709:What pathway does Insulin use?


3417

INsulin; growth factors ;via Tyrosine Kinase


3418

Q1710:What do you see in the PIMP system? (PIP2)


3419

Gq magazine;Cicis; C C C;Phospholipase C;Protein Kinase

C;Ca+


3420

Q1711:Who activates the Ca+ release in the Endoplasmic

Reticulum E.R.?


3421

IP3 activates Ca+ release


3422

Q1712:What does Ca+ activates what in the PIP2 system?


3423

Protein Kinase C


3424

Q1713:What membrane enzyme is used in the ANF or NO?


3425

Guanylate Cyclase


3426

Q1714:If you want to;


3427

Use Guanylate Cyclase


3428

Q1715:Guanylate cyclase activates what?


3429

cGMP ;G is nice to get some;


3430

Q1716:cGMP activates what?


3431

Protein Kinase G


3432

Q1717:What does Protein Kinase G do?


3433

Relaxes Smooth Muscle;;Relax and ENjoy the RIDE!


3434

Q1718:Where is nitrous oxide found?


3435

Heme membrane


3436

Q1719:HOw does insulin activate hormone receptors?


3437

Via Tyrosine Kinase


3438

Q1720:WHat do you find in the membrane for Insulin?


3439

Two beta subunits;cross membrane;;2 membrane helix

span;unlike ANF that has 1 membrane helix span


3440

Q1721:What is unique about the cAMP and PIP2 system?


3441

THey both have a 7 membrane helix span receptor


3442

Q1722:What enzyme of the hormone receptor has only 1

membrane span?


3443

ANF;guanylate cyclase


3444

Q1723:What hormone receptor has 2 membrane helix span?


3445

INsulin;Tyrosine Kinase


3446

Q1724:Where does Nitrous Oxide (NO) come from? a.a.?


3447

Arginine


3448

Q1725:What are some drugs that increase NO?


3449

nitroprusside;Nitroglycerine;Isosorbide dinitrate;Viagra

(Sildenafil);Agina


3450

Q1726:Where is glut 4 found?


3451

Adipose;Muscle;Not Liver Glut-1


3452

Q1727:What happens if there is a mutation that increases G

protein?


3453

Oncogenic;activation of ras (p21 monomeric);gsp (G2 alpha)


3454

Q1728:What is involved in the p21ras oncogene?


3455

Colon;Lung;Breast;Bladder ;ALL TUMORS!!!;liked to

Tyrosine Kinase;G protein!!!


3456

Q1729:WHat is the mechanism for glucocorticods to cause

DM?


3457

They increase PEPCK activity via response elements causing

increase gluconeogenesis;increase in glucose---> DM;via Zinc

Finger Proteins


3458

Q1730:Which enzyme does Insulin activate in glucose related

metabolism?


3459

Glycogen Synthase;glucose is stored;glycogen is made;you are

in a well-fed state;just ate


3460

Q1731:Which enzyme is activated when glucagon is present?


3461

Glycogen Phosphorylase is activated;degrages glycogen --->

glucose;increase the release of glucose;you are starving


3462

Q1732:TCA cycle intermediates


3463

Can I Keep Selling Sex For Money;

Officer?;Citrate;Isocitrate;alpha-Ketoglutarate;Succinyl-

CoA;Succinate;Fumarate;Malate;Oxaloacetate


3464

Q1733:Regulated glycolytic enzymes


3465

Hexokinase (-G6P);Glucokinase (+insulin);PFK1 (-citrate -

ATP +AMP +F-2;6-BP);Pyruvate kinase (-Ala; -ATP; +F-

1;6-BP);Pyruvate dehydrogenase (-ATP; -NADH; -Acetyl-

CoA)


3466

Q1734:Regulated TCA cycle steps


3467

Citrate synthetase (-ATP);Isocitrate dehydrogenase (+ADP; -

ATP; -NADH);Alpha-KG dehydrogenase (-NADH; -ATP; -

succinyl CoA)


3468

Q1735:Lesch-Nyhan syndrome


3469

HGPRT deficiency; can'd do purine salvage pathway; get uric

aciduria. X-linked


3470

Q1736:I cell disease


3471

Lack of mannose-6-phosphate transfer enzyme in golgi

network means can't tag lysosomal enzymes for traffic to

lysosome. Get secreted instead->coarse facies; early death


3472

Q1737:Energy from TCA cycle per acetyl CoA


3473

3 NADH --> 9 ATP;1 FADH2 --> 2 ATP;1 GTP --> 1

ATP;12 ATP/cycle via oxidative phosphorylation


3474

Q1738:Galactosemia


3475

Mild: Galactokinase deficiency->galactitol->childhood

cataracts;Severe: Gal-1P uridyl transferase deficiency-> very

high galactitol->liver damage; galactosemia; galacturia;

cataracts; mental retardation ;Tx both w/glucose & lactose free

diet


3476

Q1739:Fructosuria


3477

Fructokinase deficiency: benign fructosuria;Fructose

intolerance: Lack of aldolase B to convert F1P to DHAP and

glyceraldehyde->vomiting w/fructose load; mental retardation;

etc.


3478

Q1740:Cofactors for PDH and a-KGDH


3479

Vitamin B1->thiamine->TPP;Vitamin B2->riboflavin-

>FAD+;Vitamin B3->niacin->NAD+;Vitamin B5-

>pentothenate->CoA;Lipoic acid


3480

Q1741:Cori cycle


3481

1) Anaerobic glycolysis in muscle to pyruvate;2)Pyruvate ->

lactate to regenerate NAD+;3) Lactate to liver via blood;4)

Lacate converted back to pyruvate and then to glucose by

gluconeogenesis (6 ATP);5) Glucose sent back to muscle in

blood


3482

Q1742:Energy yield of anaerobic glycolysis


3483

2 ATP;Reducing equivalents in NADH used to convert

pyruvate to lactate via LDH to regenerate NAD+ to keep

running glycolysis


3484

Q1743:Hexokinase vs glucokinase


3485

Hexokinase: all cells; inhib'd by G6P;Glucokinase: liver & islet

cells; stim'd by insulin with lower Km but higher Vmax-

>glucose storage and


3486

Q1744:SAM


3487

S-adenosyl methionine;ATP+Met-->SAM->-

>Homocysteine;Need B12 & folate to regenerate methionine

from ATP;Regeneration of methionine is how B12 converts

dietary folate into form usable by purine synth and

thymidylate synthase


3488

Q1745:GPCRs that signal via Gs


3489

Gs stims cAMP synth;B1->inotrope/chronotrope;B2->SMC

relaxation;H2->stomach;V2->aquaporin insertion in

kidney;D1


3490

Q1746:GPCRs that signal via Gq


3491

Gq > PLC > DAG+IP3 > PKC & Ca2+;H1->allergy;a1-

>vasoconstrict;V1->vasoconstrict;M1;M3


3492

Q1747:GPCRs that signal via Gi


3493

Gi inhibs cAMP synth;M2;a2;D2


3494

Q1748:Collagen types


3495

Type 1: classic (bone; skin);Type 2: cartilage/joints;

hyaline;Type 3: Reticulin (skin etc); granulation tissue;Type

4: basement membranes


3496

Q1749:Electron transport chain


3497

NADH > e- > ;Complex I > H+ ;CoQ ;FADH2 > e- >

Complex II >CoQ;complex III > H+;Cyt C;Complex IV > H+

+ O2;H+ > ATP synthase > ATP


3498

Q1750:Oligomycin


3499

Inhibs ATP synthase > can't dissipate H+ gradient > ETC

machinery gets backed up and stopped > ROS


3500

Q1751:2;4-dinitrophenol


3501

Allows H+ to leak out of mitochondrial matrix > uncouples

electron transport from ATP synthesis gradient


3502

Q1752:Rotenone


3503

Inhibs e- transport > stops ETC > reduces proton gradient


3504

Q1753:Cyanide


3505

Inhibs e- transport > stops ETC > reduces proton gradient


3506

Q1754:Irreversible gluconeogenesis enzymes


3507

Pyruvate carboxylase (mitochondria;PEP

carboxykinase;Fructose-2;6-bisphosphatase;Glucose-6-

phosphatase (liver only)


3508

Q1755:von Gierke's disease


3509

Type I glycogen storage disease;Glucose-6-phosphatase

deficiency;Liver can't export glucose;-Glycogen accum-

>hepatomegaly;-Hypoglycemia;-Lactic acidosis


3510

Q1756:Essential amino acids


3511

PVT TIM

HALL;Phenylalanine;Valine;Tryptophan;Threonine;Isoleucin

e;Methionine;Histidine;Arginine;Leucine;Lysine


3512

Q1757:PVT TIM HALL


3513

Phenylalanine;Valine;Tryptophan;Threonine;Isoleucine;Methi

onine;Histidine;Arginine;Lysine;Leucine


3514

Q1758:Purely ketogenic amino acids


3515

Leucine & lysine only. Both are also essential


3516

Q1759:Purely glucogenic essential AA:


3517

V-MATH;Valine; methionine; arginine; threonine; histidine


3518

Q1760:Urea cycle


3519

Ordinarily; Careless Crappers Are Also Frivolous About

Urination;Ornithine;Carbamoyl

phosphate;Citruline;Asparatate;Arginosuccinate;Fumarate;Ar

ginine;Urea


3520

Q1761:Black urine


3521

Alkaptonuria: can't break down homogentisic acid; a

metabolite of tyrosine


3522

Q1762:Musty odor; pale skin; mental retardation


3523

Phenylketonuria: can't convert phenylalanine (musty and

retarded) to tyrosine (pale)


3524

Q1763:Cystinuria frequency


3525

4.902777778


3526

Q1764:Cystinuria defect


3527

COLA;Defect of AA transporter responsible for resorption

of Cysteine; Ornithine; Lysine & Arginine from proximal

tubule


3528

Q1765:Components of sucrose


3529

Fructose + glucose


3530

Q1766:Components of lactose


3531

GaLactose + glucose


3532

Q1767:Function of ApoA1


3533

Cofactor for LCAT


3534

Q1768:Function of ApoB


3535

Binds LDLR


3536

Q1769:Function of ApoCII


3537

Cofactor for lipoprotein lipase


3538

Q1770:Function of ApoE


3539

Cofactor for lipoprotein binding to receptor for uptake


3540

Q1771:Cherry red spot


3541

Tay-Sachs disease; deficiency of hexosaminidase; so can't

degrade GM2 ganglioside;Also Nieman Pick disease;

deficiency of sphingomyelinase


3542

Q1772:fat soluble


3543

ADEK; absorption dependent on gut (ileum) and

pancreas;toxicity more common because they accumulate in

fat;malabsorption can cause def


3544

Q1773:water soluble


3545

B1; B2; B3; B5; B6; B12; C; biotin; folate;all wash out easily

from body except B12 which is stored in liver


3546

Q1774:A def


3547



3548

Q1775:A function; exceess


3549

constituent of visual pigment; arthralgias; fatigue; headahce;

skin change; sore throat; alopecia;found in leafy veggies


3550

Q1776:B1 (thiamine) def


3551

Beriberi and WK syndrome; seen in alcoholism and

malnutrition;dry: polyneuritis;wet: high output CF


3552

Q1777:B1 function


3553

cofactor for oxidative decarboxy of a-ketoacids; cofactor for

transketolase in HMP shunt


3554

Q1778:B2 (riboflavin) def


3555

angular stomatitis; cheilosis; corneal vascularization


3556

Q1779:B2 function


3557

cofactor in ox-red;FMN; FAD


3558

Q1780:B3 def


3559

pellagra can be caused by Hartnup disease (decreased tryp

absorption); malignant carcinoid syndrome and INH;sxs:

diarrhea; dermatitis; dementia


3560

Q1781:B3 function


3561

constituent of NAD; NADP;derived from tryp using B6


3562

Q1782:B6 (pyridoxine) def


3563

convulsions; hyperirritability (def induced by INH and OCP);

peripheral neuropathy


3564

Q1783:B5 function


3565

coverted to pyridoxal phosphate - transaminatiors (ALT;

AST); decarbox; heme synthesis


3566

Q1784:B12 (cobalamin) def


3567

macrocytic; megaloblastic anemia; neuro sxs (optic

neuropathy; subacute combined degeneration; parasthesia);

glossitis;def caused by: malabsorption; lack of IF; or absence

of terminal ileum;Schilling test to detect def;abnormal myelin

seen


3568

Q1785:B12 function


3569

cofactor for homocysteine methylation (transfers CH3

groups);stored in liver;very large reserve;synthesized by

microorganisms


3570

Q1786:Folic acid def


3571

most common vitamin def; macrocytic; megaloblastic

anemia;no neuro sxs


3572

Q1787:folic acid function


3573

coenzyme (tetrahydrofolate) for 1 carbon transfer; involved in

Me reactions;important for synthesis of nitrogenous bases in

DNA and RNA


3574

Q1788:Biotin def


3575

dermitits; enteritis; caused by antiobiotic use; ingestion of raw

eggs


3576

Q1789:Biotin function


3577

cofactor for caboxylations;pyruvate-->OAA;ACOA--

>MCoA;PCOA-->MMCoA


3578

Q1790:Vit C def


3579

scurvy- swollen gums; bruising; anemia; poor wound healing


3580

Q1791:Vit C funciton


3581

necessary for hydroxylation of proline and lysine in collagen

synthesis;facilitates iron absorption by keeping iron in Fe2

reduced state;necessary cofactor for DA-->NE


3582

Q1792:Vit D def


3583

rickets in children (bending bones); osteomalacia in adults

(soft bones); hypocalcemic tetany


3584

Q1793:function vit D


3585

increase intestinal absorption of Ca and P


3586

Q1794:vit D excess


3587

hypercalcemia; loss of appetite; stupor;seen in sarcoidosis-

disease where epithelial macrophages convert vit D into active

form


3588

Q1795:storage form of vitamin D


3589

25-OH D3


3590

Q1796:active form of vit D


3591

1; 25 (OH)2 D3


3592

Q1797:vit D from milk


3593

ergocalciferol; consumed in milk D2


3594

Q1798:vit D from sun skin


3595

cholecalciferol D3


3596

Q1799:Vit E def


3597

increased fragility of erythrocytes; neurodysfunction


3598

Q1800:vit E function


3599

antioxidant (protects erythrocytes from hemolysis)


3600

Q1801:vit K def


3601

neonatal hemorrhage with increased PT and PTT but normal

bleeding time because neonates have sterile intestines and are

unable to synthesize vit K


3602

Q1802:vit K function


3603

catalyzes gamma carboxylation of glutamic acid residues on

various proteins concerned with blood clotting;synthesized

by intestinal flora


3604

Q1803:K dependent clotting factors


3605

II; VII; IX; X;protein C and S;warfarin is vitamin K antagonist


3606

Q1804:Zinc deficiency


3607

delayed wound healing; hypogonadism; decreased adult hair;

may predispose to alcoholic cirrhosis


3608

Q1805:Clinical characteristics of WK syndrome


3609

ocular distrubances; nystagmus;gait ataxia;mental dysfunction

(confusion; apathy; listlessness; disorientation);Korsakoff

psychosis- retrograde recall; inability ot acquire new info


3610

Q1806:ntureint def assoc with cheilosis; glossitis; stomatitis


3611

iron; riboflavin; niacin; folate; B12


3612

Q1807:how does niacin help tx type IIb

hyperlipoproteinemia


3613

inhibits lipolysis in adipose-->less circulating free fatty acids

--> less fatty acids to liver --> less VLDL --> less LDL


3614

Q1808:INH leads to deficiency in


3615

B6 and B3


3616

Q1809:folic acid is involved in synthesis of;


3617

purines (A and G) and thymine


3618

Q1810:where is B12 absorbed


3619

distal ileum;Crohns and sprue can cause absorption problems


3620

Q1811:what organs help absorb B12


3621

salivary glands; stomach; pancreas; distal ileum


3622

Q1812:antioxidant vitamins


3623

C; E and A


3624

Q1813:how does vit D work at the cell


3625

interacts with target cell DNA to selectively stimulate or

repress gene stimulation


3626

Q1814:first vit D hydroxylation


3627

25; in liver


3628

Q1815:second vit D hydroxylation


3629

1; in kidney


3630

Q1816:What drug block DNA Topoisomerase II? Prok?

Eukar?


3631

Prok: nalidixic acid/quinolones;Eukaryotes: etoposide ;and

teniposide


3632

Q1817:Which cells contain telomerase? What are they linked

with?


3633

embryonic; germ cells; stem cells except somatic cells;-

cancer/malignant cells have a high level of telomerase;They are

linked with apoptosis


3634

Q1818:What is another name for topoisomerase II in PROK?


3635

DNA gyrase


3636

Q1819:What nucleic acid has the most methyl groups?


3637

Cytosine


3638

Q1820:What happens when you take a methyl out of

Cytosine?


3639

It becomes demethylated to Uracil


3640

Q1821:During what cell cycle does DNA repair occur?


3641

G1 Phase


3642

Q1822:When does mismatch repair occur? (phase)


3643

G2 phase


3644

Q1823:What does p53 gene encode for?


3645

Protein that prevents a cell w/ damaged DNA from entering

the S phase


3646

Q1824:What disease is associated with p53 gene?


3647

Li Fraumeni Syndrome and many solid tumors


3648

Q1825:What is ATM gene?


3649

ATM encodes for a kinase needed for p53 to work


3650

Q1826:What is ATM gene associated with?


3651

ataxia telangiectasia


3652

Q1827:What is ataxia telangiectasia?


3653

hypersensitivity to X-rays;predisposition to lymphomas


3654

Q1828:What is BRCA1 associated with?


3655

Breast; Prostate and Ovarian Cancer


3656

Q1829:What is BRCA 2 associated with?


3657

Breast cancer


3658

Q1830:What are BRCA1 and 2 associated with?


3659

required for p53 activity


3660

Q1831:What happens when UV light damages DNA? What

disease is prone to this damage? Why?


3661

it crease thyamine dimers;- patients with Xeroderma

Pigementosa;- they lack excision endonuclease


3662

Q1832:What does Xeroderma Pig. consists of?


3663

- Extreme UV sensitivity;- excessive freckling;- multiple skin

cancers;- corneal ulcerations


3664

Q1833:What are two diseases that are associated with DNA

repair?


3665

Xeroderma and Hereditary Nonpolyposis Colorectal Cancer

(HNCC)


3666

Q1834:What drug inhibits DNA dependent RNA

polymerase?


3667

Rifampin


3668

Q1835:What drug binds to DNA preventing its transcription?


3669

Actinomycin D


3670

Q1836:What drug inhibits RNA polymerase II?


3671

amanitin (from mushrooms)


3672

Q1837:Which RNA do RNA Pol 1;2 and 3 code for?


3673

1 2 and 3 rhyme with R M T;respectively;1 rRNA 2 mRNA

3 tRNA


3674

Q1838:What is similar to sigma factor in Eukaryotes?


3675

TFIID; transcription factors II;they bind before RNA Pol;

just like Sigma factors


3676

Q1839:How does RNA pol know where to start?


3677

- sigma factor needs to find promoter region;- two consensus

sequences are recognized as TATA BOX


3678

Q1840:How long does sigma stay bound to DNA?


3679

As soon as transcription begins; sigma is released


3680

Q1841:How does mRNA know when to stop trasncription?


3681

Rho-independent termination occurs when newly formed

RNA folds on itself to form GC-rich hairpin loop


3682

Q1842:How does Rho-dependet termination work?


3683

Rho displaces RNA pol from the 3' end of the RNA once it

has paused at the termination site


3684

Q1843:What binds to Shine-Dalgarno sequence?


3685

Ribosomes


3686

Q1844:Where are Shine-Dalgarno sequences located?


3687

5' end


3688

Q1845:What is unique about prokaryotic transcription and

translation?


3689

They can both start at the same time with the help of Shine-

Dalgarno sequences which allow ribosomes to hook on and

start the translation before transcription is done


3690

Q1846:What is Shine-Dalgarno?


3691

Shine-Dalgarno sequences lets prokaryotes shine! They can

do 2 things at the same time! Transcribe and TRANSLATE!


3692

Q1847:What are the three STOP codons?


3693

UAG;UAA;UGA;U Are Gone;U Are Away;U Go Away


3694

Q1848:What is the poly-A tail added for?


3695

1) protect from rapid degradation;2) transport to cytoplasm


3696

Q1849:What is added at the 5' end of the transcribed mRNA?


3697

It is actually hnRNA and a methylguanosine cap Me-Gppp is

added to the 5' end


3698

Q1850:What is the function of the methyl guanosine cap?


3699

It helps protect the mRNA chain from degradation


3700

Q1851:Where is the poly A tail added?


3701

3' end


3702

Q1852:What can you say about the length of the poly A tail?


3703

The longer the more stable the mRNA (hnRNA)


3704

Q1853:What is another name for spliceosome?


3705

snRNP; SNURP


3706

Q1854:What is the function of spliceosomes?


3707

They excise introns and leave only exons to be expressed


3708

Q1855:What disease has a problem in spliceosomes/snRNP?


3709

B-thatlassemia since mutations interfere with the splicing of

Beta-Globin mRNA


3710

Q1856:How are the introns degraded?


3711

They are degraded in a lariat structure and excised by

spliceosomes


3712

Q1857:How can you calculate how many introns you have?


3713

I=E-1;If you have 4 exons;Then you have I=4-1;I=3; 3 introns


3714

Q1858:Where is the activated amino acid in a tRNA?


3715

at the 3' end


3716

Q1859:How does tRNA accomplish its lariat shape

(loop/cloverleaf)?


3717

it has weird bases like;D;T;Pseudouridine


3718

Q1860:Where is the anticodon found in the tRNA?


3719

in the middle of the loop;center loop in between 5' and 3' ends


3720

Q1861:How do you know a protein is marked for

destruction?


3721

It has been ubiquiniated by ubiquitin;Usually because of

misfolding


3722

Q1862:Who translates proteins for cytoplasm and

mitochondria?


3723

free cytoplasmic ribosomes


3724

Q1863:Who transtalates proteins for secreted proteins;

membrane proteins; and lysosomas enzymes?


3725

Rough E.R.


3726

Q1864:How can you make a protein to be delivered to the

R.E.R.?


3727

N-terminal hydrophobic signal sequence has to be added to be

secreted or placed in the membranes


3728

Q1865:How do you direct a prtoein to go inside a lysosome?


3729

It is phosphorylated with a mannose residue in the R.E.R;-

usually this protein is an enzyme to be delivered to the

lysosome


3730

Q1866:What happens to misfolded proteins?


3731

They are mark with ubiquitin to be destroyed by

proteosomes;you will be liquidated!!!;Ubiquinated!!!!


3732

Q1867:What are proteosomes?


3733

They are large cytoplasmic complexes that digest damaged

proteins


3734

Q1868:What enzyme is deficient in Fabry's Dz?


3735

alpha-galactosidase A


3736

Q1869:What enzyme is deficient in Krabbe's Dz?


3737

BB for beta-galactosidase


3738

Q1870:What enzyme is deficient in Gaucher's Dz?


3739

beta-glucocerebrosidase;(It is in the center of the reactions)


3740

Q1871:What enzyme is deficient in Niemann-Pick's Dz?


3741

Sphingomyelinase


3742

Q1872:What enzyme is deficient in Metachromic

Leukodystrophy?


3743

Arylsulfatase A


3744

Q1873:What enzyme is deficient in Tay Sachs Dz?


3745

Hexosaminidase A


3746

Q1874:What accumulates from Fabry's Dz?


3747

ceramide trihexoside


3748

Q1875:What is the finding in Fabry's Dz?


3749

renal failure


3750

Q1876:What accumlulates in Krabbe's Dz?


3751

galactocerebroside in the brain


3752

Q1877:What is the finding in Krabbe's Dz?


3753

Optic atrophy;spasticity;early death;The krabbe got your

eyes!


3754

Q1878:What accumlulates in Gaucher's Dz?


3755

glucocerebroside;- brain;- liver;- spleen;- bone marrow;G is for

Glucocerebrosidase


3756

Q1879:What accumlulates in Neimann Pick's Dz?


3757

sphingomyelin and cholesterol;No man Picks his nose with

hiSPHINGER


3758

Q1880:Wnat are the findings in Neimann Pick Dz?


3759

increase cholesterol and sphyhingomyelin in

reticuloendothelial and parenchymal cells;- Patients die by age

3


3760

Q1881:What accumlulates in Tay Sachs Dz?


3761

GM2 ganglioside 2


3762

Q1882:What are the findings in Tay Sachs Dz?


3763

Cherry-red spot on macula;1:30 carrier in European

Jews;Death by age 3;Got a Sach of Cherries in your Macula


3764

Q1883:What accumlulates in Metachromatic

Leukodystrophy?


3765

sulfatide in;- brain;- kidney;- liver;- peripheral nerves


3766

Q1884:Which lysosomal storage diseases (of the

sphingolipidoses) are autonomal recessive?


3767

All except Fabry's!!!


3768

Q1885:What lysosomal storage disease are x-linked?


3769

sphingolipidosis: Fabry's;mucopolysaccharidoses:

Hunter's;Hunter's hit the X


3770

Q1886:What mucopolysacharidose Dz has no corneal

clouding?


3771

Hunter's;They need to see what they hunt!


3772

Q1887:What enzyme is deficient in Hurler's Dz?


3773

alpha-L-iDURONidase


3774

Q1888:What enzyme is deficient in Hunter's Dz?


3775

iDURONate sulfatase


3776

Q1889:What increases in Hurler's Sx?


3777

heparan and dermatan sulphate;mucopolysaccharides


3778

Q1890:What are the signs of Hurler's Sx?


3779

Halted growth ;Progressive mental retardation ;Thick; coarse

facial features with low nasal bridge ;Cloudy corneas

;Deafness ;Joint disease; including stiffness ;Heart value

problems ;Abnormal bones of spine and claw hand


3780

Q1891:How do we screen for Hurler's Sx?


3781

Urine Heparan and Dermatan sulfate


3782

Q1892:What is a term associated with Hurler's Sx?


3783

Gargoylism since there are facial deformities


3784

Q1893:What signs and symtoms are associated with Hunter's

Sx?


3785

protuberant abdomen; claw hands; excessive hair growth;

coarsening of the face with grotesque facial features; retarded

growth; and behaviour problems.


3786

Q1894:Which syndrom is severe? Hurler or Hunter?


3787

Hurler's Syndrome ;It is termed MPS I;Hunter is MPS II


3788

Q1895:What amino acid is unique to collagen?


3789

Hydroxyproline


3790

Q1896:Where does glycosylation occur?


3791

E.R. and Golgi apparatus


3792

Q1897:Which enzymes are requiered to make collagen?


3793

proline and lysine hydroxylases


3794

Q1898:What vitamin is needed to make collagen?


3795

Vitamin C;- Hydroxylates Proline and Lysine in the RER


3796

Q1899:What are some co-factors of lysyl oxidase?


3797

O2 and Copper (Cu)


3798

Q1900:What Dz results from deficiency of Lysyl Oxidase and

why?


3799

Deficient Copper (Cu2+);Menke's Dz is a genetic deffect that

decrease collagen synthesis


3800

Q1901:What enzyme is deficient in Ehler's Danlos?


3801

Lysine Hydroxylase


3802

Q1902:What are the signs and symptoms of Menke's Dz?


3803

Depigmented (steely) hair;Arterial tortuosity;

rupture;Cerebral degeneration;Osteoporosis


3804

Q1903:What collagen is affected in Osteogenesis Imperfect?


3805

Type I for bONE


3806

Q1904:What do you see in patients with Osteogenesis

Imperfecta?


3807

skeletal deformities;fractures;blue sclera


3808

Q1905:What other disease is involved in Copper usage?


3809

Wilson's Dz but it is a Copper (Cu2+) toxicity


3810

Q1906:What are some symptoms of Wilson's Dz?


3811

Liver Cirrhosis;Cu damages nerves and causes Brown Kaisser-

Fleischner Rings


3812

Q1907:What inhibits eEF-2? Elongation factor 2 in

Eurkaryotes


3813

Diphtheria and Pseudomonas Toxins


3814

Q1908:What inhibits protein translation in Eukaryotes?


3815

Diphteria and Pseudomonas


3816

Q1909:Where do Diphtheria and Pseudomonas act?


3817

eEF-2 is inhibited


3818

Q1910:How many ATPs high energy bonds are needed to

translate an amino acid?


3819

4 Total for each amino acid;breakdown;2 ATP for charging;1

GTP for initiation;1 GTP for Elongation


3820

Q1911:What is the antibiotic of choice for pertussis?


3821

Erythromycin; blocks transLOcation;macrOLide


3822

Q1912:What results in Menkes Dz?


3823

- Fragile bones;- Fragile blood vessels;from poorly crosslinked

connective tissue


3824

Q1913:What blocks ADP ribosylation of EF-2?


3825

Diphtheria and Pseudomonas


3826

Q1914:What is an operon?


3827

group of proteins required for a particular metabolic function


3828

Q1915:Where is the regulatory region in Prokaryotes?


3829

Upstream on the 5' end


3830

Q1916:What kind of mRNA does the operon produce?


3831

Polycistronic mRNA


3832

Q1917:What two ways of transcriptional control exist in

prokaryotes?


3833

regulation of activator and repressor proteins;Attenuation


3834

Q1918:Where do we find Attenuation?


3835

Histidine Operon


3836

Q1919:What model do we use for activator and repressor

proteins?


3837

Lac Operon


3838

Q1920:What two regulatory proteins exist in the Lac Operon

Control?


3839

lac repressor protein;c-AMP-dependent activator protien

(CAP)


3840

Q1921:What does the lac operon sense?


3841

glucose is preferred but in the absence lactose is taken as

energy


3842

Q1922:What regulates the CAP?


3843

cAMP levels;if glucose is low; cAMP increases and activates

it


3844

Q1923:What happens to the lactose operon if glucose is

present?


3845

it is shutdown;glucose decreases cAMP;so CAP doesn't bind

to CAP site


3846

Q1924:When does CAP bind to CAP site?


3847

when glucose is low since cAMP is high


3848

Q1925:When is the repressor protein made?


3849

Always since it is embedded in the mRNA sequence


3850

Q1926:What does lactose do to the lac operon?


3851

lactose induces gene expression since it prevents the repressor

protein from binding to the operator sequence


3852

Q1927:If lactose is high and glucose is low what happens?


3853

1) lactose binds to repressor and stimulates gene

expresssion;2) cAMP is high so it binds to CAP protein and


3854

Q1928:When does the lactose operon stop sequence?


3855

when the repressor protein is bound to the operator


3856

Q1929:When is high expression of the lac operon found?


3857

High lactose and no glucose


3858

Q1930:When glucose is present does cAMP go up or down?


3859

they are inversely proportional;Glucose high cAMP

low;glucose low cAMP high


3860

Q1931:When glucose is high; what happens to the repressor?


3861

it remains active since CAP can't block it (cAMP is low)


3862

Q1932:What compounds are formed when lactose is broken

down?


3863

galactose and glucose


3864

Q1933:What enzyme degrades lactose?


3865

Beta-Galactosidase


3866

Q1934:Where does RNA polymerase work on?


3867

Promoter


3868

Q1935:Lactose goes with


3869

Repressor


3870

Q1936:Repressor attaches to?


3871

Operator


3872

Q1937:Attenuation??? Which operon?


3873

Histidine Operon


3874

Q1938:What happens when histidine is absent?


3875

enzymes are produced


3876

Q1939:What other a.a. work similar to the Histidine Operon?


3877

Tryptophan;Leucine;Phenylalanine


3878

Q1940:What is attenuation?


3879

premature termination of transcription


3880

Q1941:What does attenuation in prokaryotes depdend on?


3881

The fact that transcription and translation occur

simultaneously in prokaryotes


3882

Q1942:What happens if histidine is present?


3883

Transcription is terminated before RNA pol reaches operon


3884

Q1943:Can attenuation occur in Eukaryotes?


3885

No! Transcription and translation are two separate;

independent events


3886

Q1944:What starts translation after leader peptide is made?


3887

Shine-Dalgarno sequence


3888

Q1945:What happens when histidine is low?


3889

the ribosomes will stall and not form the stem and loop +

poly U that stops the ribosomes and they will continue to

transcribe the genes of the operon


3890

Q1946:What are activator proteins called in Eukaryotes?


3891

Response Elements


3892

Q1947:Where are response elements located?


3893

Some upstream in promoter region;Most in an enhancer region

outside of promoter even more upstream


3894

Q1948:Where are upstream promoter elements located?


3895

Just upstream of -25 sequence TATA Box


3896

Q1949:What does the upstream promoter elements include?


3897

CCAAT Box (-75) NF-1;GC-rich SP-1 (in between -25 and -

75)


3898

Q1950:What are the characteristics of enhancers?


3899

Contain activator proteins;- may be 1000 bp away from

gene;- upstream; downstream; within an intron;-they are

tissue specific


3900

Q1951:What are repressor proteins in Eukaryotes called?


3901

Silencers


3902

Q1952:What are cis regulators?


3903

DNA regulatory base sequences/binding sites for proteins


3904

Q1953:What are trans regulators?


3905

transcription factors


3906

Q1954:What are the properties of a trans regulatory

property?


3907

they can diffuse through the cell to their point of action.


3908

Q1955:What protein class are steroid receptors?


3909

Zinc Finger


3910

Q1956:What protein class are cAMP response element

binding prtoeins? (CREBs)


3911

Leucine Zipper


3912

Q1957:Homeodomain proteins are what protein class and

what are they involved in?


3913

Helix-turn-helix;Regulate gene expression during

development;- embryonal development


3914

Q1958:What protein class are peroxisome proliferator-

activated receptors? (PPARs)


3915

Zinc finger proteins


3916

Q1959:What is the response element for 1) steroid

receptors?;for 2) cAMP?;for 3) peroxisome (PPARs)


3917

1) HRE;2) CRE;3) PPREs


3918

Q1960:Which response element is induced with the new tx for

insulin resistance?


3919

PPARs;- thiazolidinediones


3920

Q1961:What is a new drug that targets Peroxisime

proliferator-activated receptors? (PPARs)


3921

Clofibrate;-affects lipid metabolism


3922

Q1962:What happens when glucose is low?


3923

Glucagon released


3924

Q1963:What is the effect of glucagon on gene regulation?


3925

increases cAMP


3926

Q1964:What happens in time of stress?


3927

Cortisol secreted


3928

Q1965:What does cAMP do?


3929

- activates Protein Kinase A;- CREB is activated via

phosphorylation


3930

Q1966:CREB binds to what in the nucleus?


3931

CREB enters the nucleus and binds CRE region in the

enhancer region


3932

Q1967:What does the GRE and CRE region do?


3933

They enhance or activate PEPCK gene


3934

Q1968:Who activates GRE enhancer region?


3935

cortisol (glucocorticoid response element)


3936

Q1969:Who activates CRE enhancer region?


3937

Active CREB (cAMP response element) which is activated

by cAMP


3938

Q1970:What are two homeodomain protein regulator genes?


3939

HOX and PAX genes;Homeobox and Paired-Box genes


3940

Q1971:What disease is associated with PAX (paired-box)

genes?


3941

Klein Waardenburg syndrome (WS-III);dystopia canthorum;

pigment abnormalities;congenital deafness;limb abnormalities


3942

Q1972:What are some exceptions to codominat expression?


3943

- Barr Body (inactive X chromosome) in women;- Ig heavy

and light chain loci;- T-cell receptor loci


3944

Q1973:What happens when genes become acetylated?


3945

The histones are acetylated and it increases gene expression


3946

Q1974:How do genes become silenced? Give two diseases

that follows this;


3947

Methylation of DNA silences genes;Prader-Willi and

Angelman Sx


3948

Q1975:What chromosome is involved in defect of imprinting?


3949

Chromosome 15


3950

Q1976:What is the problem in Prader-Willi Sx?


3951

Prader-Willi region is inherited from Paternal Origin (P for

P);so; if father has defective chromosome 15 then symptoms

will occur


3952

Q1977:What are the symptoms of Prader-Willi Sx?


3953

- Childhood obesity + hyperphagia;- Hypogonadotrophic

hypogonadism;- Mental Retardation;- Hypotonia


3954

Q1978:How else can you get Prader-Willi Sx?


3955

uniparental (maternal) disomy of chromosome 15


3956

Q1979:When does upstream termination occur?


3957

When histidine is present


3958

Q1980:When does downstream termination occur?


3959

when histidine is absent;* this is a normal termination


3960

Q1981:What kindo of domain do HOX and PAX have?


3961

helix-turn-helix domain


3962

Q1982:What is the first step in increase activity of beta-

galactosidase activity?


3963

increase in cAMP due to glucose depletion


3964

Q1983:Why does beta-galactosidase activity decrease?


3965

depletion of lactose;- dissociation of repressor protein;-

binding of repressor to operator control region


3966

Q1984:Chp. 6


3967

Recombinant DNA


3968

Q1985:WHat does restriction sites provide?


3969

Usually defense against DNA viruses


3970

Q1986:How do palindromes get protected in bacterial DNA?


3971

methylase enzyme modification


3972

Q1987:How is infecting viral DNA recognized?


3973

unmethylated palindromes are recognized by restriction

endonuclease


3974

Q1988:What is a vector?


3975

piece of DNA that is capable of autonomous replication in a

host cell


3976

Q1989:What is recombinant DNA?


3977

when a fragment is placed inside a vector


3978

Q1990:What is a genomic DNA library?


3979

colonies produced by plating the recombinant DNA with

antibiotic resistance and sensitivity


3980

Q1991:What can restriction site polymorphisms be used for?


3981

These enzymes cut DNA sequences and detect defects in

longer sequences or shorter sequences;Example: Sickle Cell

Mutation which results in ONE long 1.35 kb fragment instead

of a 1.15kb and a 0.2kb fragment (2 fragments is normal)


3982

Q1992:What do cDNA lack?


3983

introns


3984

Q1993:What must cDNA contain?


3985

complete coding sequence of a gene


3986

Q1994:What is produced at the end of a cloning procedure?


3987

An expression library


3988

Q1995:What do you do after reverse transcriptase has created

the first strand of cDNA?


3989

Treat DNA with NaOH to remove mRNA template


3990

Q1996:What enzyme do you use to create cDNA?


3991

reverse transcriptase


3992

Q1997:How do you remove mRNA template strand in

making cDNA?


3993

NaOH (sodium hydroxide)


3994

Q1998:What must be inserted in order to produce proteins as

the end product of cloning?


3995

- Bacterial Promoter;- Shine-Dalgarno Sequence


3996

Q1999:What are 3 examples in which cDNA expression

libraries are being used?


3997

1) Recombinant Human Insulin;2) Recombinant Factor VIII

(treating Hemophilia A);3) Recombinant HBsAg

(antigen(protein) is made and given to patients to immunize

them against hepatitis B without introducing the live virus)


3998

Q2000:Does the gene therapy cure the patient and subsequent

generations?


3999

NO! it cures only the patient since it is only introduced into

the affected organ and not into the reproductive tissues of the

afected individual


4000

Q2001:What is a transgenic animal?


4001

animal in which a new gene has been introduced into its

germline


4002

Q2002:How is gene therapy different from Transgenic

Animals?


4003

transgenic animals have virtually new gene in every cell;

including the gametophytes so that they get passed on to their

offspring and these are no longer affected by the defect


4004

Q2003:What are genomic libraries used for?


4005

studying DNA sequences that are not expressed;- response

elements;- introns;- promoters;Constucting restriction maps

of DNA (sickle cell);Id genetic markers (microsatellites)


4006

Q2004:Chp. 7


4007

Genetic Testing


4008

Q2005:What are the Autosomal Dominant Dz characteristics?


4009

- Only one mutant allele needed;- both sexes affected;- male to

male transmission


4010

Q2006:What are the Autosomal Dominant Dz?


4011

1) Familian Hypercholesterolemia (LDL receptor def.);2)

Huntington Dz;3) Neurofibromatosis I;4) Marfan Sx;5) Acute

Intermitent Porphyria


4012

Q2007:What are the characteristics of autonsomal recessive?


4013

- two mutant alleles are requiered;- born to unaffected

parents;- either sex;- male to male transmission


4014

Q2008:What are some of the autosomal recessive dz?


4015

* Sickle Cell Anemia;* Cystic Fibrosis;* Phenylketonuria;*

Tay-Sachs Dz (Hexosaminidase A def.)


4016

Q2009:What are the traits of X-linked dominant?


4017

- One mutant allele ;- either sex;- affected male passes on to all

daughters;- affected female passes trait to both fem and males


4018

Q2010:What are 2 X-linked Dominant Dz?


4019

- Hypophosphatemic Rickets;- Fragile X syndrome


4020

Q2011:What are the traits of X-linked recessive dz?


4021

- usually males are affected;- no male to male transmission


4022

Q2012:What are some of the X-linked recessive dz?


4023

1) Duchene Muscular Dystrophy;2) Lesch Nyhan Sx

(Hypoxanthine-guanine phosphoribosyltransferase

HGPRT)self mutilation;3) Glucose-6-Phosphate

Dehydrogenase def;4) Hemophilia A and B


4024

Q2013:What is the trait of Mitochrondrial Inheritance?


4025

- inherited maternally;- ALL offspring of affected female are

affected!


4026

Q2014:What are the 3 diseases that arise from Mitochrondrial

Inheritance?


4027

LHON; MELAS and MERRF;1) Leber Hereditary Optic

Neurophathy;2) Mitochondrial Encephalomyopathy; lactic

acidosis; stroke-like episodes;3) Myoclonic epilepsy with

ragged red muscle fibers


4028

Q2015:What form of inheritance is Cystif Fibrosis?


4029

autosomal recessive


4030

Q2016:How do you inherit Hungtington Dz?


4031

Autosomal Dominat


4032

Q2017:What form of inheritance is sickle cell disease?


4033

autosomal recessive


4034

Q2018:What form of inheritance is Fragile X Sx?


4035

X-linked Dominant


4036

Q2019:How is Phenylketonuria inherited?


4037

autosomal recessive


4038

Q2020:How is Lesch-Nyhan Sx inherited?


4039

X-linked recessive


4040

Q2021:How is Neurofibromatosis I inherited?


4041

Autosomal Dominant


4042

Q2022:What is the mode of inheritance of Marfan Sx?


4043

Autosomal Dominant


4044

Q2023:How is Leber Hereditary Optic Neuropathy inherited?


4045

Mitochrondrial Inheritance


4046

Q2024:How is Duchenne Muscular Dystrophy inherited?


4047

x-linked recessive


4048

Q2025:How is myoclonic epilepsy inherited?


4049

mitochrondrial inheritance


4050

Q2026:How is Acute intermittent porphyria inherited?


4051

Autosomal DOMINANT


4052

Q2027:How is Rickets inherited?


4053

X-linked Autosomal Dominant


4054

Q2028:How is Cystic Fibrosis inherited?


4055

autosomal recessive


4056

Q2029:How is Phenylketonuria inherited?


4057

autosomal recessive


4058

Q2030:How is Familia Hypercholesterolemia inherited?


4059

Autosomal Dominant;LDL receptor deficiency


4060

Q2031:How is Tay-Sachs Disease inhertied?


4061

autosomal recessive


4062

Q2032:How is Lesch-Nyhan Sx inherited?


4063

HGPRT def;X-linked recessive


4064

Q2033:How is Hemophilia A and B inherited?


4065

X-linked recessive


4066

Q2034:How is Glucose-6-phosphatase inherited?


4067

X-linked recessive


4068

Q2035:How is cystic fibrosis inherited?


4069

CFTR autosomal recessive


4070

Q2036:Which RNA is identical to the coding strand?


4071

the mRNA


4072

Q2037:What is the template strand?


4073

The strand that is compelementary and antiparallel to the

mRNA


4074

Q2038:What amino acids (a.a.) are precursors of

catecholamines?


4075

Phenylalanine and Tyrosine


4076

Q2039:What does tryptophan form?


4077

Serotonin and Niacin


4078

Q2040:What a.a. is involved in depression?


4079

Tryptophan--> makes Serotonin


4080

Q2041:What a.a. are involved in maple syrup disease?


4081

Isoleucine; Leucine and Valine;I Love Vermont maple syrup!!!


4082

Q2042:What a.a. is a secondary amine?


4083

Proline


4084

Q2043:What does Proline do to the protein structure?


4085

disrupts secondary structure


4086

Q2044:What are the acidic a.a.?


4087

aspartic acid and glutamic acid ;negatively charged coo-


4088

Q2045:What a.a. are basic? 3


4089

Histidine; Arginine; Lysine;BASE HAL;They are positively

charged NH+


4090

Q2046:What a.a. is associated with the Golgi apparatus? 2


4091

serine and threonine;O-linked glycosylation;Mannose-6-

phosphate;lysosomes


4092

Q2047:What a.a. is associated w/ endoplasmic reticulum and

export of proteins?


4093

Asparagine;N-linked glycosylation


4094

Q2048:What are two a.a. that conatin sulfure?


4095

Cysteine and Methionine


4096

Q2049:What does cysteine do to the protein structure?


4097

stabilize the shape of proteins (3ry structure)


4098

Q2050:What two a.a. are linked with post-translational

modificacion?


4099

serine; threonine and asparagine


4100

Q2051:What a.a. is a methyl donor?


4101

methionine ;S-adenosaylmethionine (SAM)


4102

Q2052:What does tyrosine make?


4103

Catecolamines;Thyroid T3/T4;Melanin


4104

Q2053:What is the smallest a.a.?


4105

glycine


4106

Q2054:What a.a. makes tyrosine?


4107

Phenylalanine


4108

Q2055:What is made with tyrosine?


4109

cathecholamiens;thyroid T3T4;melanin


4110

Q2056:What a.a. is associated with Vitamin B3?


4111

tryptophan is asociated with B3 (niacin) ;NAD


4112

Q2057:What disease is also related to tryptophan deficiency

and pellagra?


4113

Hartnup Dz;since decreases Niacin B3 and causes Pellagra

(dermatitis; diarrhea; demetnia)


4114

Q2058:What a.a. contributes to the negative charge of

proteins?


4115

aspartic acid coo-;glutamic acid


4116

Q2059:What a.a. contributes to the positive charge of

proteins?


4117

lysine and arginine


4118

Q2060:What a.a. is abundant in RBC?


4119

histidine since it brings the pH to 7.0


4120

Q2061:What is the only a.a. that is useful in maintaining the

physiologic pH (7.2-7.4)?


4121

Histidine pK at 7.0


4122



4123

PVT TIM HALL;Private tim hall


4124

Q2063:What does PVT TIM HALL stand for?


4125

Phenylalanine;Valine;Tryptophan;Threonine;Isoleucine;Methi

onine;Histidine;Arginine;Leucine;Lysine


4126

Q2064:What charge is the protein if the pH is lower than the

pI?


4127

positive ;- it is trying to compensate and neutralize it

(buffering it)


4128

Q2065:What charge is the protein if the pH is higher than the

pI?


4129

negative


4130

Q2066:What are Cooperative Enzymes called?


4131

Allosteric Enzymes


4132

Q2067:WHat happens when Km increases?


4133

the affinity is low


4134

Q2068:What do enzymes do with chemical Rx?


4135

decrease energy of activation


4136

Q2069:What happens when there is a competitive inhibitor?


4137

Km increases; Vmax stays the same;Thin Kompetitive

Increases


4138

Q2070:What happens when noncompetitive inhibitor binds?


4139

Km no effect; Vmax decreases


4140

Q2071:What happens when an irreversible inhibitor binds?


4141

Km no effect; Vmax decreases


4142

Q2072:What are two examples of competitive inhibitors?


4143

HMG-coA reductase;Methotrexate (inhibits folic acid

dihidrofolate reductase)


4144

Q2073:What hormones affecte near-by organs?


4145

paracrine


4146

Q2074:What hormones go around the body through long

distances?


4147

telecrine


4148

Q2075:What are two examples of paracrine hormones?


4149

prostaglandins and neurotransmitters


4150

Q2076:What are two classes of telecrine hormones?


4151

endocrine and GI hormones


4152

Q2077:What are the two classes of hormones?


4153

Hydrophocis and Hydrophilic


4154

Q2078:Where is the receptor for water soluble hormone?

Lipid soluble?


4155

Water- receptor on cell membrane;Lipid - inside the cell Zinc

Finger


4156

Q2079:What happens to the hormone inside the cell?


4157

Water - second messengers;Lipid - hormone receptor complex

binds to response elements (HRE in enhancer region)


4158

Q2080:How are water soluble hormones controlling gene

expresion?


4159

Through proteins like cAMP respones element binding

(CREB)


4160

Q2081:Which process (water or lipid soluble) is faster?


4161

water soluble


4162

Q2082:What hormone group uses Leucine Zippers?


4163

Water Soluble


4164

Q2083:Give three examples of water soluble?


4165

Insulin;Glucagon;Catecholamines


4166

Q2084:What are 4 examples of lipid soluble hormones?


4167

Steroids;Calcitriol;Thyroxines;Retinoic Acid


4168

Q2085:What are the three second messengers for water

soluble hormones?


4169

cAMP;PIP2 (DAG; IP3; Ca2+);cGMP


4170

Q2086:What does cAMP control? protein/enzyme/kinase?


4171

Gs protein; adenyl cyclase enzyme; protein kinase A


4172

Q2087:What does PIP2 control? protein/enzyme/kinase?


4173

Gq; phospholipase C; protein kinase C


4174

Q2088:What does cGMP control? protein/enzyme/kinase?


4175

none; guanyl cyclase; protien kniase G


4176

Q2089:What are two examples of cAMP control?


4177

glucagon;epinephrine (alpha2 and beta)


4178

Q2090:What are two examples of PIP2?


4179

vasopressin;epinephrine (alpah 1)


4180

Q2091:What are two examples of cGMP?


4181

Atrial Natriuretic Factor (ANF);Nitric Oxide (NO)


4182

Q2092:What does insulin; growth factor control?

protein/enzyme/kinase?


4183

monomeric p21ras; none; tyrosine kinase


4184

Q2093:What are some examples of insulin and growth factors

control?


4185

insulin;insulin-like growth factor (IGF);platelet-derived

growth factor (PDGF);Epidermal Growth Factor (EGF)


4186

Q2094:What water soluble hormone system has a 7 helix-

span?


4187

cAMP and PIP2 system


4188

Q2095:Whioh system works inside the nucleus?


4189

cAMP through CREB protein


4190

Q2096:Which system works with the E.R.?


4191

PIP2; releases Ca2+ from E.R.


4192

Q2097:What system doesn't requiere G proteins?


4193

cGMP for example Atrial Natriuretic Factor (ANF)


4194

Q2098:What two protoncogenes are associated with G

proteins?


4195

1) p21ras oncogene ;colon; lung; breast and bladder CA;2) gsp

oncogene;pituatary tumor; adenomas; endocrine ovarian

turmos


4196

Q2099:What protein is stimulated in Cholera toxin?


4197

Gs alpha stimulates increase in cAMP


4198

Q2100:What is similar in ADP-ribosylation of Gs alpha?


4199

Cholera toxin and E. coli toxin


4200

Q2101:What bacteria inhibits Gi alpha?


4201

Pertussis;Increase activity of adenyl cyclase


4202

Q2102:What does p21 ras do?


4203

stimulates monomeric G protein


4204

Q2103:What is SH2 linked with?


4205

Tyrosine Kinase


4206

Q2104:What is sildenafil associated with?


4207

inhibits cGMP phosphodiesterase (PDE) in vascular smooth

muscle


4208

Q2105:What is the correct sequence in cGMP and sildenafil?


4209

increase cGMP--> increase protein kinase--> vasodilation


4210

Q2106:What is associated with growth factor?


4211

tyrosine kinase


4212

Q2107:Vitamins


4213

Chp. 10


4214

Q2108:What enzymes is biotin involved in?


4215

All cabroxylases;pyruvate; acetyl coA; propionyl coA

carboxylase


4216

Q2109:Which enzymes is vitamin B1 involved in?


4217

Thiamine is B1 involved in ;pyruvate dehydrogenase;alpha-

ketoglutarate dehydrogenase;transketolase


4218

Q2110:What pathways are involved with Thiamine?


4219

B1 is involved in;PDH (pyruvate DHG);TCA cycle (alpha-

kg);HMP Shunt (transketolase)


4220

Q2111:What are the symptoms of B1 deficiency?


4221

Wernicke- ataxia; nystagmus; ophtalmoplegia;Korsakoff-

confabulation; psychosis;Wet Beri-beri cardiac failure lots of

ATP needed


4222

Q2112:What is vitamin B3?


4223

Niacin


4224

Q2113:What is vitamin B3 involved with?


4225

dehydrogenases


4226

Q2114:What co-factors are made by B3?


4227

NAD and NADP


4228

Q2115:What disease comes about with B3 deficiency?


4229

diarrhea; dementia; dermititis ;pellagra


4230

Q2116:What is a.a. deficient in B3 deficiency?


4231

tryptophan (in corn)


4232

Q2117:What is folic acid involved in? (enzyme)


4233

thymidylates synthase;purine synthesis enzymes


4234

Q2118:What is the MCC of B1 deficiency?


4235

Alcoholism


4236

Q2119:What is the MCC of thiamine def.?


4237

alcoholism and pregnancy


4238

Q2120:How long is thiamine stored?


4239

3 months


4240

Q2121:What are the risks of folic acid deficiency?


4241

homocystinemia;deep vein thrombosis and atherosclerosis


4242

Q2122:What happens to fetus if there is folic acid def.?


4243

neural tube defects


4244

Q2123:What is vitamin B12 involved in? enzymes?


4245

Homocysteine methyltransferase;Methymalonyl CoA mutase


4246

Q2124:What pathways is B12 involved in?


4247

methionine; SAM;odd-carbon FA;val; met; ile; thr


4248

Q2125:What two vitamins cause megaloblastic anemia?


4249

B12 and folic acid


4250

Q2126:What is the MCC of B12 def?


4251

pernicious anemia


4252

Q2127:What are other causes of B12 def.?


4253

aging; poor nutrition; bacterial overgrowth of terminal

ileum;resection of terminal ileum secondary to Crohn's

DZ;chronic pancreatitis;vegans;infection with D. Latum


4254

Q2128:What is the difference between B12 and folic acid def.?


4255

B12 has progressive peripheral neuropathy


4256

Q2129:What enzymes are involved with B6 vitamin?


4257

B6 is pyridoxine;Aminotransferases;AST (GOT);ALT

(GPT);Lamba-Aminolevulinate synthase


4258

Q2130:What pathways is B6 involved in?


4259

protein catabolism;heme synthesis


4260

Q2131:What is the MCC of vit. B6 def.?


4261

isoniazis therapy


4262

Q2132:What do you find in B6 def.?


4263

sideroblastic anemia;cheilosis and stomatitis;convulsions


4264

Q2133:What is B2 vitamin?


4265

RI BO flavin


4266

Q2134:What cofactors are derived from B2?


4267

FAD(H2)


4268

Q2135:What enzymes are involved with B2?


4269

dehydrogenases


4270

Q2136:What findings w/ B2 def?


4271

Corneal neovascularization;Cheilosis;Stomatitis;Magenta-

Colored Tongue


4272

Q2137:What enzymes are involved with vitamin C?


4273

prolyl hydroxylases;Lysyl hydroxylases;DOPAMINE

hydroxylase


4274

Q2138:What pathways are involved with vitamin C?


4275

collagen syntehsis;catecholamine synthesis;(absoprtion of

Iron from GI tract)


4276

Q2139:What is the MCC of vit. C def?


4277

diet deficient in fruit and green vegetables


4278

Q2140:What vitamin is involved in carboxylation of glutamic

acid?


4279

vitamin K


4280

Q2141:What factors are involved in vitamin K?


4281

2; 7; 9; 10 Protein C and S


4282

Q2142:What is vitamin A involved in? Dz?


4283

night blidness;follicular hyperkeratosis;xerophtalmia


4284

Q2143:What is another name for vitamin A?


4285

carotene;involved in retinoic acid and retinol ;ol oic;behave as

steroid hormones


4286

Q2144:What part of vitamin A is involved in rod and cone cell

division?


4287

Retinal;al


4288

Q2145:What vitamin prevents oxidation of LDL particles?


4289

vitamin E


4290

Q2146:What is another name for vitamin E?


4291

tocopherol


4292

Q2147:What vitamin acts as steroid hormone uptake of

dietary Ca+ from gut?


4293

Vitamin D


4294

Q2148:What two disease cause by vitamin D def?


4295

children: Rickets;Adults: Osteomalacia


4296

Q2149:What is the physiologic response to hypocalcemia?


4297

- increase PTH;- PTH binds to proximal tubules;- cAMP

activate 1-alpha-hydroxylase;- 1;25 DHCC acts on duodenal

epithelial cells;- Zinc finger proteins binds to response

elements (in enhancer region of DNA);- induce synthesis of

calcium binding proteins


4298

Q2150:What vitamin is toxic in pregnancy?


4299

Vitamin A (Acutane) used to treat ACNE


4300

Q2151:What vitamin D does the skin produce?


4301

cholecalciferol (vitamin D3)


4302

Q2152:What happens to vitamin D in the liver?


4303

25-hydroxylation in the liver


4304

Q2153:What is needed in patients with renal dz; fanconi sx;

and genetic deficiency of 1-alpha-hydroxylase?


4305

they all need to be supplemented with 1;25

DHCC;dihydrocolecalciferol;since renal 1-alpha-hydroxylase

is not working


4306

Q2154:Patients with liver damage should be given what?


4307

25-DHCC or 1;25 DHCC


4308

Q2155:Liver provides what to vitamin D?


4309

two things;1st cholesterol to skin to make 7-

dehyrocholesterol;2nd 25-hydroxylation


4310

Q2156:What is the comercial name for a retinoic acid that is

teratogenic?


4311

isotretinoin


4312

Q2157:When does vitamin K act?


4313

it is a co-translational modification;it acts during translation


4314

Q2158:What causes vit. K deficiency? (drug)


4315

1) phenylhydantoins during pregnancy ;vit. k deficient

baby;2) breast-fed newborns;3) fat malabsoprtion (bile duct

occlusin);4) prolong tx w/ antibiotics


4316

Q2159:What is seen in the lab for vit K def?


4317

increase PT;factor II


4318

Q2160:What drug is a direct inhibitor of vit. K?


4319

warfarin and coumadin


4320

Q2161:Inheritance of CF?


4321

Autosomal recessive


4322

Q2162:Inheritance of albinism?


4323

Autosomal recessive


4324

Q2163:Inheritance of alpha-1 antitrypsin deficiency?


4325

Autosomal recessive


4326

Q2164:Inheritance of phenylketonuria?


4327

Autosomal recessive


4328

Q2165:Inheritance of thalassemias?


4329

Autosomal recessive


4330

Q2166:Inheritance of sickle cell anemia?


4331

Autosomal recessive


4332

Q2167:Inheritance of glycogen storage diseases?


4333

Autosomal recessive


4334

Q2168:Inheritance of mucopolysaccharidoses (EXCEPT

HUNTER'S)?


4335

Autosomal recessive


4336

Q2169:Inheritance of sphingolipidoses (EXCEPT FABRY'S)?


4337

Autosomal recessive


4338

Q2170:Inheritance of infant polycystic kidney disease?


4339

Autosomal recessive


4340

Q2171:Inheritance of hemochromatosis?


4341

Autosomal recessive


4342

Q2172:Inheritance of Fragile X syndrome?


4343

X-linked recessive


4344

Q2173:Inheritance of Duchenne's muscular dystrophy?


4345

X-linked recessive


4346

Q2174:Inheritance of Hemophilia A and B?


4347

X-linked recessive


4348

Q2175:Inheritance of Fabry's (a sphingolipidosis disease)?


4349

X-linked recessive


4350

Q2176:Inheritance of G6PD deficiency


4351

X-linked recessive


4352

Q2177:Inheritance of Hunter's syndrome (a

mucopolysaccharidosis disease)?


4353

X-linked recessive


4354

Q2178:Inheritance of OCULAR albinism?


4355

X-linked recessive


4356

Q2179:Inheritance of Lesch-Nyhan syndrome?


4357

X-linked recessive


4358

Q2180:Inheritance of Bruton's agammaglobulinemia?


4359

X-linked recessive


4360

Q2181:Inheritance of Wiskott-Aldrich syndrome?


4361

X-linked recessive


4362

Q2182:how many chromosomes and autosomes does each cell

have?;what is the genetic term?


4363

46 chromosomes;22 pairs of autosomes;1 pair of sex

chromosomes;"Diploid"


4364

Q2183:Definition;a chromosome number that is not a multiple

of 23 (the normal haploid number)


4365

Aneuploidy


4366

Q2184:(2) ways that a haploid can become aneuploidy


4367

Nondisjunction;(ex - Down's);Anaphase Lag;(monosomy)


4368

Q2185:what most commonly occurs w/ a polyploidy

fetus?;give an example of what polyploidy means


4369

spontaneous abortion;Polyploidy = multiples of 23

chromosomes;ex) 69 chromosomes in patient


4370

Q2186:Definition;two acrocentric chromosome are joined by

common centromere causing the joining of the long arms (and

possible loss of the short arms)


4371

Robersonian Translocation


4372

Q2187:Definition;the normal inactivation of one X

chromosome


4373

Lyonization;(creation of Barr Body)


4374

Q2188:How many Barr Bodies;1. XX;2. XY;3. XXXY


4375

XX = 1 barr body;XY = NO barr bodies;XXXY = 2 barr

bodies


4376

Q2189:Definition;when the cells in the body have a different

genetic make-up (such as random X inactivation in females)


4377

Mosaicism


4378

Q2190:Dx;large forehead; broad nasal bridge; epicanthal folds;

Brushfield spots; simian crease;genetic problem?


4379

Down's syndrome;;(Trisomy 21)


4380

Q2191:MCC of Down's syndrome;what is the other

cause?;what is the "Familial form"?


4381

Nondisjunction;;(Robertsonian) Translocation;(familial form)


4382

Q2192:MC heart defect w/ Down's syndrome;what is it due

to?


4383

Septum primum-type ASD;due to: Endocardial Cushion

defect


4384

Q2193:(3) MC complications of Down's syndrome


4385

AAA;ASD;ALL;Alzheimers


4386

Q2194:what is the maternal screening for Down's;1. Alpha-

fetoprotein;2. hCG;3. Unconjugated estriol


4387

AFP = Low;hCG = High;E2 = Low


4388

Q2195:Dx;severe mental retardation; microcephaly; wide-set

eyes; low birth weight; round face; unusual cry;genetic

problem?


4389

Cri du chat;(deletion: 5p-)


4390

Q2196:Dx;cardiac abnormalities; hypocalcemia; thymic

aplasia; abnormal facies; cleft palate;genetic problem?


4391

DiGeorge syndrome;(also called Velocardialfacial

synd);(22q11 microdeletion);*signs = CATCH-22


4392

Q2197:Dx;mental retardation; prominent occiput;

Micrognathia; Rocker-bottom feet; index finger overlaps 3rd

and 4th fingers; Congenital heart dz;genetic problem?


4393

Edwards syndrome;(Trisomy 18 - nondisjunction);*18 =

Election = Edwards


4394

Q2198:Dx;mental retardation; microcephaly; Microphthalmia;

cleft lip and palate; Polydactyly; rocker-bottom feet;genetic

problem?


4395

Patau syndrome;(Trisomy 13 - nondisjunction);13 = Puberty

= Patau (= 13 fingers)


4396

Q2199:Definition;disorder when there are at least two X-

chromosomes and one or more Y-chromosomes


4397

Klinefelter syndrome


4398

Q2200:Dx;male w/ Atrophic testes; Tall stature;

Gynecomastia; decreased testosterone; increased pituitary

gonadotropins; male infertility;genetic problem?


4399

Klinefelter syndrome;(maternal meiotic nondisjunction);[Kline

felt her TAG him]


4400

Q2201:Dx;Violent behavior; tall; severe Acne


4401

XYY syndrome


4402

Q2202:MCC of Primary Amenorrhea


4403

Turner's syndrome


4404

Q2203:Dx;Short stature; shield-like chest; Amenorrhea;

Webbed neck; Ovary replaced by Fibrous Streaks;genetic

problem?


4405

Turner's syndrome;(XO w/o Barr bodies);[Turner WAS not

feminine]


4406

Q2204:MC cardiac problem w/ Turner's syndrome


4407

Coarctation of the aorta


4408

Q2205:(2) common cardiac defects w/ 22q11 syndromes

(DiGeorge)


4409

Truncus Arteriosus;Tetralogy of Fallot;[where all the T's

went to;]


4410

Q2206:Dx;mental retardation; long face w/ large jaw; large

everted ears; Autism; Macro-orchidism;genetic problem?


4411

Fragile X syndrome;(X-lined defect w/ CGG repeats);[big

testicles = X-rated]


4412

Q2207:what is the underlying (biochemical) cause of Fragile X

syndrome?;what is unusual about this syndrome?


4413

defect in Methylation of FMR1 gene;X-linked problem that

may show signs of retardation in male and female offspring


4414

Q2208:Definition;severity of Dz worsens or age of onset of

dz is earlier in succeeding generations;(example)


4415

Anticipation;(Huntingtons)


4416

Q2209:Definition;hereditary disorders in which differing

phenotypes occur depending on whether an abnormal gene is

of maternal or paternal origin;(examples)


4417

Genomic Imprinting;(Prader-Willi or Angelman)


4418

Q2210:Dx;mental retardation; hypogonadism; hypotonia;

behavior problems; uncontrolled appetitie leading to obesity

and DM;genetic problem?


4419

Prader-Willi syndrome;(5q11-13 deletion on father's

chromosome)


4420

Q2211:Dx;mental retardation; ataxia; seizures; inappropriate

laughter;genetic problem?


4421

Angelman syndrome;(5q11-13 deletion on mother's

chromosome)


4422

Q2212:Definition;Not all individuals w/ mutant genotype

show mutant phenotype


4423

Incomplete penetrance


4424

Q2213:Definition;one gene has greater then one effect on the

individual's phenotype


4425

Pleiotropy


4426

Q2214:Definition;a heterozygote produces a nonfunctional

altered protein that also prevents the normal gene product

from functioning


4427

Dominant Negative mutation;(exerts a Dominant effect)


4428

Q2215:Definition;mutations at different loci can produce the

same phenotype;(example)


4429

Locus Heterogenicity;(Albinism)


4430

Q2216:Equation for Hardy-Weinberg population

genetics;Disease Prevalence


4431

p^2 + 2pq + q^2 = 1


4432


genetics;Allele Prevalence


4433

p + q = 1


4434


genetics;Heterozygote Prevalence;(p and q on separate alleles)


4435

HP = 2pq


4436

Q2219:type of inheritance;often due to Structural defects


4437

Autosomal Dominant


4438

Q2220:type of inheritance;often due to Enzyme deficiencies


4439

Autosomal Recessive


4440

Q2221:Main sign of;X-linked Recessive


4441

no male-to-male transmission


4442

Q2222:Main sign of;X-linked Dominant


4443

All females are affected by father


4444

Q2223:Lysosomal storage Dz;peripheral neuropathy of hands

and feet; angiokeratomas; CV and renal

Dz;Enzyme?;inheritance?


4445

Fabry's Dz;(alpha-Galactosidase A);X-recessive


4446

Q2224:Lysosomal storage Dz;hepatosplenomegaly; aseptic

necrosis of femur; bone pain; unique macros;Enzyme?


4447

Gaucher's Dz;(Glucocerebrosidase)


4448

Q2225:Lysosomal storage Dz;progressive neurodegeneration;

hepatosplenomegaly; cherry-spot on macula;Enzyme?


4449

Niemann-Pick;(Sphingomyelinase)


4450

Q2226:Lysosomal storage Dz;progressive neurodegeneration;

developmental delay; cherry-spot macula; lysozymes w/

onion skin;Enzyme?


4451

Tay-Sachs Dz;(Hexosaminidase A)


4452

Q2227:Lysosomal storage Dz;peripheral neuropathy;

developmental delay; optic atrophy;Enzyme?


4453

Krabbe's Dz;(beta-Galactosidase);[Krabs have small eyes]


4454

Q2228:Lysosomal storage Dz;developmental delay;

gargoylism; airway obstruction; corneal clouding;Enzyme?


4455

Hurler's syndrome;(Alpha-L-IDuronidase);[A Lit-ID in

Quasimoto caused him to HURL the GARGOYLE]


4456

Q2229:Lysosomal storage Dz;mild developmental delay; mild

gargoylism; airway obstruction; aggressive

behavior;Enzyme?;inheritance?


4457

Hunter's syndrome;(Iduronate Sulfatase);[Hunter's Aggressive

ID Shot the X];X-recessive


4458

Q2230:Familial Dyslipidemia type;Inc Chylomicrons

only;pathology?


4459

Type I;(hyperchylomiconemia);Lipoprotein Lipase

deficiency


4460

Q2231:Familial Dyslipidemia type;Increased LDL only;(high

blood cholesterol);pathology?


4461

Type IIa;(hypercholesterolemia);Low LDL receptors


4462

Q2232:Familial Dyslipidemia type;Increased LDL and

VLDL;pathology?


4463

Type IIb;(combined hyperlipidemia);Hepatic overproduction

of LDL


4464

Q2233:Familial Dyslipidemia type;Increased IDL;

VLDL;pathology?


4465

Type III;(dysbetalipoproteinemia);Altered Apo-E


4466

Q2234:Familial Dyslipidemia type;Increased VLDL

only;(high blood TG);pathology?


4467

Type IV;(hypertriglyceridemia);Hepatic overproduction of

VLDL


4468

Q2235:Familial Dyslipidemia type;Increased VLDL;

chylomicrons;pathology?


4469

Type V;(mixed hypertriglyceridemia);Inc production or Dec

clearance of VLDL and chylomicrons


4470

Q2236:Autosomal Dominant Dz;cafe-au-lait spots; neural

tumors; pigmented iris hamartomas; scoliosis


4471

Neurofibromatosis Type 1;(Von Recklinghausen Dz);(chrom

17)


4472

Q2237:Autosomal Dominant Dz;bilateral acoustic neuromas;

optic pathway gliomas; juvenile cataracts


4473

Neurofibromatosis Type 2;(chrom 22)


4474

Q2238:Autosomal Dominant Dz;facial lesions;

hypopigmented "ash leaf spot" on skin; cortical and retinal

hamartomas; seizures; mental retardation


4475

Tuberosus Sclerosis


4476

ivms genetics flash facts

Documents