bio-gen inno-vision 2012_dr kumar ponnusamy 1 min papers on inborn errors of aa metab & dna rna

8/2/2019 BIO-GEN INNO-VISION 2012_Dr Kumar Ponnusamy 1 Min Papers on Inborn Errors of AA Metab & DNA RNA

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4/2/12

A ONE Minute Paper on Lesch-NyhanSyndrome (LNS)

What is the Syndrome is likely to the patient is sufferingom?

esch-Nyhan Syndrme (LNS).What is the enzyme deficient or hyperactivity in LNS?.

ypoxanthine Guanine Phosphoribosyl Transferase (HGPRT)eficiency/ Inability to salvage hypoxanthine or guanine .

What type of Inheritance causes LNS?.-linked recessive rare genetic disorder that affects

males.

What are the compounds will accumulate in LNS?hospho Ribosyl Pyro Phosphate (PRPP) + Decrease IMP+GMP/ric acid Crystals / Monosodium Urate Cystals / Tophi.

LNS is early onset or late onset ?ate onset within 1-3 years.st a few signs & Symptoms of LNS?evere neurologic disease, characterized by self-mutilating

ehaviors such as lip and finger biting and/or head banging. Up to0 times the uric acid in the urine than in normal individuals. Uriccid crystals form in the urine. Untreated condition results ineath within the first year due to kidney failure. Often presents asain and swelling confined to one joint. The big toe joint isommonly affected. The problems partly arise because neutrophielease lysosomal enzymes as a result of damage to thehagosome membrane by ingested crystals:

What is the treatment option for patients suffering from

NS?.llopurinol, a competitive inhibitor ofxanthine oxidase.olchicine acts to reduce the attack by inhibiting lysosome

BIO-GEN INNO-VISION 2012 DrKumar Ponnusamy


2/12

4/2/12

A ONE Minute Paper on Heme Metabolismhat is Heme?

hat are the precursors of heme biosynthesis?

ame the organs in which heme is synthesized.

hat is the rate-limiting enzyme in heme biosynthesis?

hat is the allosteric inhibitor of heme biosynthesis?

hat is the coenzyme required for -ALA synthase.

ame the sites of heme biosynthesis in the cells.

hat are the enzymes inhibited by Lead?

hat is the fate of heme?

ame the heme degradation product / pigment excreted in the Urine?

ame the bile pigment excreted n the feces / stools.

hich bilirubin is water souble?

hat is direct bilirubin?

hat is indirect bilirubin?

hat is the qualitative test by which bilirubin will be identified?

here the conjugation of bilirubin occurs?

hat is the enzyme catalyses the conjugation process?

ame the different types of jaundice.

hich enzyme levels are low in neonatal jaundice?

ame a few causes of Obsructive jauncdice.hich type of bilirubin will be elevated in the hemolytic jaundice.obstructve jaundice which type of bilirubin will be elevated in the serum?hat enzyme defeciency / hyperactivity causes Dubin-Johnson Syndrome

DJS)hat type of bilirubin increases in in DJS?hat is defect in Crigler Najjar Syndrome (CNS)?hat is the causes of sideroblastic anemia?

hat is the defect in X-linked Sideroblatic Anemia?hat enzyme is deficient in Porphyria Cutanea Tarda (PCT)?.hat enzyme is absent in Congenetal Erythropoietic Porphyria?.


3/12

4/2/12

A ONE Minute Paper on Severe Combined ImmunoDeficiency (SCID) Syndrome

What is the Syndrome is likely to the patients suffering from?

What are the enzyme deficient oryperactivity in SCID?denosine Deaminase (ADA),

What type of Inheritance causes SCID?utosomal recessive disorder due to deficiencyfADA.

What are the compounds will accumulate inSCID?

Which type of cells are affected in SCID?

ow dATP accumulation leads to immuno deficiency?

s SCID is early onset or late onset ?

st a few signs & Symptoms of SCID?

What is the treatment option for patients suffering fromCID?one marrow transplantation.

mpairment in which biosynthetic / degradation pathywayeads to SCID?


4/12

4/2/12

A ONE Min Paper onAlkaptonuria (AKU)

What is the Syndrome is likely to the patient is sufferingom?

What are the enzyme deficient or hyperactivity in AKU?

What type of Inheritance causes AKU?

What are the compounds will accumulate in AKU?

Which type of cells / organs are affected in AKU?

ow enzyme deficiency leads to AKU?

AKU is early onset or late onset ?

st a few signs & Symptoms of AKU?

What organs are affected by AKU?

What are the complications of AKU?

What is the treatment option for patients suffering from

KU?

mpairment in which biosynthetic / degradation pathyway


5/12

4/2/12

A ONE Min Paper onAlbinism

What is the Syndrome is likely to the patient is sufferingrom?

What are the enzyme deficient or hyperactivity inlbinism?

What type of Inheritance causes Albinism?

What are the compounds will accumulate in Albinism?

Which type of cells / organs are affected in Albinism?

ow enzyme deficiency leads to Albinism?

s AKU is early onset or late onset ?

st a few signs & Symptoms of Albinism?

What organs are affected by Albinism?

What are the complications of Albinism?

What is the treatment option for patients suffering fromlbinism?

mpairment in which biosynthetic / degradation pathyway


6/12

4/2/12

A ONE Min Paperon Gout

What is the Syndrome is likely to the patient is sufferingrom?

What are the enzyme deficient or hyperactivity in Gout

What type of Inheritance causes Gout?

What are the compounds will accumulate in Gout?

Which type of cells / organs are affected in Gout?

ow enzyme deficiency leads to GOUT?

s Gout is early onset or late onset ?

st a few signs & Symptoms of Gout?

What organs are affected by Gout?

What are the complications of Gout?

What is the treatment option for patients suffering fromout?

mpairment in which biosynthetic / degradation pathwayeads to Gout?


7/12

4/2/12

A Min Paper on DNAStructureWhat is type of DNA is present in Eukaryotic cells?

What are the cell organalles contains DNA?

What type of DNA is present in the Mitochondria?.

What are Histones and how many subunit s are there inistones and mention the fractions.

Which are the major amino acids present in histones?.

Where the replication and transcription proces ses

ccurs?.

What is meant by translation and what is the cellularocation it occurs?.

What are the Nuclotides present in DNA?

ame the pentose sugar present in the DNA?

What type of bonds which exists in between twoomplementary nitogenous bases of DNA?

ow many hydrogen bonds exists in between purine & andow many hydrogen bonds exists in between pyrimidine?.

Which nucleotide is in RNA and which nucleotide is absentn RNA molecule?.

What type of bond which exists in between 3OH group & end of pentose sugars of Nucleotides?.

What type of bond which exists in between 1st carbon

tom of pentose sugar and 9 Nitrogen atom of Purine oryrimidiene bases?

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8/12

4/2/12

A Min Paper on DNAStructureWhat is type of DNA is present in Eukaryotic cells?

What are the cell organalles contains DNA?

What type of DNA is present in the Mitochondria?.

What are Histones and how many subunit s are there inistones and mention the fractions.

Which are the major amino acids present in histones?.

Where the replication and transcription proces ses

ccurs?.

What is meant by translation and what is the cellularocation it occurs?.

What are the Nuclotides present in DNA?

ame the pentose sugar present in the DNA?

What type of bonds which exists in between twoomplementary nitogenous bases of DNA?

ow many hydrogen bonds exists in between purine & andow many hydrogen bonds exists in between pyrimidine?.

Which nucleotide is in RNA and which nucleotide is absentn RNA molecule?.

What type of bond which exists in between 3OH group & end of pentose sugars of Nucleotides?.

What type of bond which exists in between 1st carbon

tom of pentose sugar and 9 Nitrogen atom of Purine oryrimidiene bases?

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9/12

4/2/12

A Min Paper on DNAStructure.n which type of cells DNA Topoisomerase I is present & wh

the function of it?.

What is DNA Gyrase?

What is the clinical application of DNA Gyrase?

ame one Topoisomease I / DNA Gyrase Inhibitor?

What is the function s of DNA Topoisomerase II inhibitors?

What is the clinical application of DNA Topoisomerase IInhibitors?

ame a few Topoisomerase Inhibitos acts as an anticancer /ntineoplastic agents?

What is the function of Reverse Transcriptase?.

What is meant by DNA annealing?

t what temparature DNA denaturation (breakage ofydrgen bonds) occurs?

What is the products of DNA replication & Transcription?.

What is the product of Translation process?

What is Gene?. What are the different functional parts of genased on its function. 99


10/12

4/2/12

A Minute Paper onRNAWhat is meant by Transcription & where it occurs?

s there any primers are required for RNA Biosynthesis?

ow many types of RNAs are there? and name them?.

Which nucleotide is replaced in RNA in comparison withNA?.

st the Eukaryotic RNA polymerases & its specificunctions?

ow many strands are there in RNAs?.

s RNA can fold itself to make intrachain hydrogenonding?

Which enzyme synthesizes RNA?.

ow many subuits are there in RNA polymerase and Namehe individual subunits.

What is meant by promotor site?.

What is the functions of sigma factor?.

What is the functions of rho factor?.

ame the different types of termination process ofranscription.

What primer is needed for RNA biosynthesis?

What is the function of Reverse Transcriptase?.

ame the eukaryotic RNA polymerase inhibitor and itsinical applications?.

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11/12

4/2/12

A Minute Paper onRNA.

What is -Amanitin and its mode of action?.

What is meant by Cistron?

What is meant by Monocistronic & Polycistronic?.

What is meant by promotor site?.

ame the THREE stages of Transcription.

What type of modification occurs in the 5 end and 3 endf Eukaryotic mRNA? And what is the purpose of theserocesses?.

n which terminal region of mRNA the Polyadenylationccurs?.

What is meant by direct splicing & Alternate Splicing?.

What is the functions of Splicosomes?, and which part ofhe sequences are removed as a lariat?.

What is meant by Introns & Exons?.

ame the THREE termination codons?

s Transcription process exerts Proofread & Repairingunctions?

What is the reason that there is a lot of chance formutations in RNA molecule?

Which type of RNA contains codons & which type of RNAmolecule contains anticodon regions? 1111


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4/2/12

A Minute Paper onRNA.

What terminal of the tRNA accepts amino acids?.

ame the THREE different modified nucleotides present inhe tRNA molecule.

What is meant by Ribozyme / Peptidyl Transferase?.

s all enzymes are made up of polypertides / proteins?. Ishere any exception that non-proteinacious substance canct as enzyme and exerts catalytic activity?.

ame the THREE different regions of a Gene.

What is meant by hnRNA / pre-mRNA.

What is the functions of SnRNA?

Which sequences of the mRNA encodes for a protein?. Is it

ntron or Exaons?.

there is a mutation in the introns, what type ofbnormality will appear in the protein expressed?.

What is the usual length of Restricion fragments & whatre the enzymes which will identfy Palindromic

equences.?

What type of ends will be there in the restrction fragment Is it blunt ends or Stick ends?

What in meant by Transcriptase?.

What is meant by Reverse Transcriptase?.

What is meant by Temomeres? What is the functions of

bio-gen inno-vision 2012_dr kumar ponnusamy 1 min papers on inborn errors of aa metab & dna rna

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