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RNA: ribonucleic acid
• Large nucleic acid built from many nucleotides bonded together
• Remember a nucleotide consists of a phosphate group, 5 carbon sugar and nitrogen containing base
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RNA nucleotide
• The 5-Carbon sugar is ribose
• The 4 nitrogen containing bases:– Adenine– Uracil– Cytosine– Guanine
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3 types of RNA
• mRNA: messenger RNA: carries the genetic code from the nucleus to the ribosome
• rRNA: ribosomal RNA: builds ribosomes
• tRNA: transfer RNA: carries amino acids to the synthesizing polypeptide
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Wednesday 4/3/13
• AIM: How is mRNA translated?
• DO NOW: Explain the importance of messenger RNA. Where does the message come from?
• HOMEWORK: Text read page 306 answer the reading check question
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Modification of RNA
• The rough draft is called the primary transcript
• Before it leaves the nucleus it gets modified
• Addition of 5’cap and Poly-A tail
• The most important is RNA splicing
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RNA modification
• 5’ cap and Poly A tail protect the RNA from being broken down by cellular enzymes
• They also help the ribosome recognize the RNA
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RNA splicing
• Introns: junk DNA that does not code for proteins
• Exons: good DNA codes for protein• Splicesome: enzymes that catalyze the
removal of introns and the connection of exons
• Allows the human genome to produce a variety of polypeptides
• One gene codes for one polypeptide
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• How do your cells know which amino acids it wants or needs?
• ANSWER: the genetic code determines the polypeptide (sequence of amino acids)
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Now the mRNA is ready to leave the nucleus and enter the
cytoplasm
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Quick Review
• What are the 3 major events that occur during transcription?
• Why is it important to modify the primary RNA before leaving the nucleus?
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The Genetic code
• Codon: sequence of 3 nucleotides that specify an amino acid
• There are 20 amino acids that build ALL polypeptides
• It is the unique sequence of amino acids that build polypeptide chains
• It is the unique folding of polypeptides that build proteins
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Codon: sequence of 3 nucleotides that specify an amino
acid
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Period 7 Thursday 4/4/13
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Friday 4/5/13
• AIM: How is the mRNA molecule translated?
• DO NOW: In your own words explain how the primary transcript is modified before it leaves the nucleus.
• Why is it modified?
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Codons to know
• AUG
• UAA
• UAG
• UGA
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• So we know DNA can replicate and transcribe. But what happens next?
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Translation: RNA to amino acid sequence
• Involves mRNA, tRNA, rRNA and ribosomes
• Before mRNA leaves the nucleus, proteins called splicesomes cut out and paste together coding regions of the primary mRNA transcript
• Plays a major role in polypeptide diversity
• Now it is ready for translation
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RNA:ribonucleic acid
• Polymer made up of small subunits called nucleotides
• Each nucleotide has a 5 C sugar, nitrogenous base and phosphate group
• The 5 carbon sugar in RNA is ribose
• The four possible nitrogenous bases are
• Adenine, uracil, cytosine and guanine
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• Instead of thymine, adenine attracts a uracil nitrogenous base
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mRNA: messenger RNA
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tRNA: Transfer RNA carries amino acids to the mRNA-ribosome complex
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mRNA: messenger RNA
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mRNA: codon
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tRNA anticodon• 3 base pair sequence complementary to the mRNA
codon • Anticodon-codon complex allows amino acids to
bond in proper sequence
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Ribosomal RNA builds ribosomes
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• AIM: How are codons translated into polypeptides?
• DO NOW: Handout. Label 1-10
• Homework: Handout
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Translation- mRNA and tRNA interact at a ribosome
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Translation continued
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Translation Stage of Protein Synthesis
• Rectangles = amino acids
• Crooked Cross = transfer RNA with an amino acid on top and anticodon at bottom
• X = messenger RNA molecule with codons
• Double oval = ribosome
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What I want you to know about translation
• Process that builds a polypeptide chain from a mRNA molecule
• The original message comes from the DNA template
• tRNA anticodon bonds to mRNA codon bringing an amino acid into its proper place
• Translation occurs in the ribosome
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Translation
• There is a specific start AUG codon
• There are 3 possible stop codons that terminate UAA,UAG or UGA
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Reading frame
• Each codon specifies an amino acid
• The reading frame is the sequence of codons in a gene
• If the reading frame is changed, the amino acid sequence may be changed
• Possibly resulting in a dis-functional protein
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Lets build a protein
DNA : TACCCTCAACTCTCAACT
mRNA: AUGGGAGUUGAGAGUUGA
tRNA: UACCCUCAACUCUCAACU
aa: met - gly- val- glu- ser
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Amino acid sequence
• MET-GLY-VAL-GLU-SER
• We got a polypeptide but is this a functional protein?
• NO! Remember it is the unique shape of a protein that gives it a specific function
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Assessment
• Handout 1-5 and A-E
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Wednesday 4/27/2011
• AIM: How is the reading frame effected if the base pair sequence changed?
• DO NOW: How would mRNA and amino acid sequence change if the following DNA template changed?
Original DNA: TACCCTCAACTCTCAACT
Changed DNA: TACCCTCATTCTCAAC
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DO NOW ANSWER
• If the gene sequence is changed and causes a change in the amino acid sequence (polypeptide), the physical characteristic changes
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Homework• Textbook Read Page 266. Using Science
graphics questions 1-3
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Are all genes in each cell expressed in every cell?
NO!
All of the 30,000 genes are in each body cell but only specific genes are
expressed in specific cells
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Differentiation
• The regulation of gene expression
• Different genes are expressed in different cells
• Different cells build different proteins
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Thursday 4/28/11
• AIM: How is human phenotype effected by genetic mutations?
DO NOW: 1- How many base pairs make up a single codon?
2- How many amino acids build all human proteins?
Homework: Read 267-269. Reading Check pages 267 and 269
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DO NOW ANSWER
• 3 nitrogen bases=codon• 64 codons in total• 20 amino acids build all
proteins• More than one codon for
a single amino acid• This is why some
mutations have NO effect on the polypeptide chain
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How do you make a polypeptide?
Gene-mRNA-ribosome-codon/anticodon bonding which makes a long
chain of amino acids
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How are polypeptides related to physical characteristics?
Polypeptides build proteins which lead to chemical reactions that
cause physical traits
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Functional protein
• Polypeptide: Long chain of amino acids– Combine with other
polypeptides– Folds into a unique shape– This makes a functional
protein– The shape of a protein is
unique to its function– If you change the shape, you
change the function
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Denaturing a protein
• Changes the shape of the protein
• If the shape of the protein changes the function changes or it does not function at all.
• How would a protein get denatured?– Gene mutation– Mistake in mRNA modification– Mistake in translation– Mistake in polypeptide folding
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• If my DNA makes a mistake, how will the protein behave?
– The protein will have a different shape, and without its shape, it cannot function properly
– Proteins are shape specific– Denature: changes the shape of a protein
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GENE Mutations
• Change in nucleotide sequence of bases in a DNA molecule (gene)
• May or may not change the amino acid sequence
• Nonsense mutation: gene sequence changes but amino acid does not
• EX: normal DNA CTT mutated DNA: CTC
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Assessment
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How many amino acids build all of the human proteins?
20
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How many nitrogen bases build RNA? 4
How many nitrogen bases make up a codon? 3
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How many codons are there?
64
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Gene Mutations
• Nucleotide substitutions: single base pair is replaced with a different incorrect pair
• Insertion: addition of 1 or more base pairs
• Deletion: removal of one or more base pairs
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Mutations
• How is the polypeptide changed if the reading frame of an mRNA molecule is changes from GGC to AGC?
• amino acid in the polypeptide chain is changed from SER to GLY
• Mutation in reading frame of a gene could result in protein dysfunction
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Sources of mutations
• Mutagen: any chemical that causes a change is nucleotide sequence of a gene– Chemicals– Medication– Vaccine– Radiation– carcinogens
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How are mutations inherited?
• If a mutation is in a gamete (sperm or egg), it will be inherited by the zygote
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Wednesday 3/10/10
• AIM: How can a genetic mutation effect the phenotype of a human being?
• DO NOW:
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How is the human genome organized?
Autosomes: 1-2223 pair sex chromosomes
XX=femaleXY=male
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Sex genetic disorders
Found on Y chromosome• Deletion of SRY• Deletion of DAZ
Found on X chromosome• Red-green
colorblindness• Hemophilia
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Deletion of the SRY gene can lead to XY females
• SRY: sex determining region
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Deletion of DAZ gene leads to infertility in males
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Sex-linked disorder
• found on the X chromosome
• female can have one copy of the allele and be a carrier
• a male with one copy always display the trait
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Red Green Colorblindness
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Hemophilia: on the X chromosome
• Inability for blood to clot
• People do not produce one of the proteins necessary for proper blood clotting
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Autosomal Genetic Disorders
• Found within Chromosomes 1-22
• If you mutate a gene, it may change the shape of the protein that it codes for
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Human Recessive Autosomal Genetic disorders
• Homozygote Recessive is the only way to display
• Heterozygotes are carriers
• Ex:A
chondroplasia (Dwarfism)
Sickle cell anemia
Cystic fibrosis
Albinism
PKU
Tay Sachs
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Achondroplasia
• Dwarfism• “without cartilage
formation”• the defect is not in
forming cartilage but in converting it to bone
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Sickle cell anemia
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Sickle cell anemia
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Sickle cell anemia
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Sickle Cell Anemia
• Effects mostly South African Descendants• Hemoglobin: protein in the red blood cell
that carries oxygen• People with Sickle Cell Anemia make a
sickled shape hemoglobin protein• Symptoms:
– Inability to carry oxygen– Shortness of Breath– Pain in Joints– Coagulation of RBC’s
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Cystic Fibrosis
• European descent
• 1:2500
• Lack of a cell membrane protein
• Causes cells to produce a thick sticky mucous
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Renal (kidney) cystic fibrosis
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Albinism
• Albinism: homozygous recessive allele for the enzyme tyrosine which builds melanin
• Melanin: protein that gives skin pigment
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Phenylketonuria (PKU)
• Base substitution( G-A)– Changes amino acid from ARG-GLU
Changes the shape of hydrooxylase enzymeEnzyme cannot break down the amino acid PHE
(Phenylalanine)
• increases the levels of a substance called phenylalanine in the blood– Causes mental retardation and other serious
health problems
• If detected early, it can be treated by dieting
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Phenylketonoria PKU
• Accumulation of the amino acid phenylaline in the blood
• Mental Retardation
• Abnormal skin color
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Tay Sachs disease
• Lipid accumulation in brain cells
• Mental deficiency• Blindness• Death in childhood• Blue stain shows
swollen neurons
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Period 2 Friday 3/12/10
• AIM: How do chromosomal disorders differ from genetic disorders?
• DO NOW: Explain why a heterozygote does not display albinism but could have a child with albinism.
• HOMEWORK:
• Textbook read pages 650-651. Observe fig 22.13. Is that child a male or female? How do you know?
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Human Dominant Disorders: Huntington disease
• Genetic duplication: repeat of CAG codon
• Causes string of glutamines (glu) in the polypeptide chain of the huntington protein
• Causes change in shape of huntington protein
• Slow deterioration of brain and nervous system
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Huntington’s disease
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Huntington Disease
• People usually have symptoms for up to 10 years before they find out they have Huntington's disease.
• Most people are diagnosed between the ages of 30 and 50, although this can happen much earlier or later.
• Symptoms are often overlooked, as they are mild and commonly experienced by well people• mild tremor • clumsiness • lack of concentration • difficulty remembering things • mood changes, including depression • sometimes, aggressive antisocial behavior
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per 6 Friday 3/12/10
• AIM: How are gene mutations different from chromosomal mutations?
• DO NOW:Explain why a heterozygote does not display albinism but could have a child with albinism.
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In your own words, explain the relationship between genes and
chromosomes.
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Gene vs chromosome
• Genes are on chromosomes
• Gene mutations: occur at the single gene
• Chromosomal mutations: loss or gain of entire chromosome
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Hypertrichosis: genetic disorderexcessive hair growth
over and above the normal for the age, sex and race of an individual
Exact cause is unknown but has been linked to a spontaneous mutation
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Nondisjunction:• Uneven distribution of chromosomes during
gamete formation
• Usually leads to spontaneous abortion or severe disorders
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Autosomal Disorders
• Trisomy 21
• Trisomy 8
• Trisomy 13
• These are the only trisomy’s that will lead to full term fetal development
• Any other trisomy will cause spontaneous abortion (miscarriage)
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Nondisjunction and Down’s syndrome
• • one gamete has two 21st the resulting fertilized egg has three 21st chromosomes.
• 90% of the abnormal cells are the eggs
• Trisomy 21
Mental retardation
Physical abnormalities
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Down’s syndrome
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Trisomy 8 and 13
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Trisomy 8• low-set or abnormally shaped ears and a
bulbous-tipped nose, eye abnormalities
• bone and tissue abnormalities,
• various structural heart problems,
• palate abnormalities
• mild to moderate mental delays
• deep hand and feet creases.
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Trisomy 13• Cleft lip or palate • Close-set eyes -- eyes may actually fuse
together into one • Decreased muscle tone • Extra fingers or toes (polydactyly) • Hernias: umbilical hernia, inguinal hernia • Hole, split, or cleft in the iris (coloboma) • Low-set ears • Mental retardation, severe • Scalp defects (absent skin) • Seizures • Single palmar crease • Skeletal (limb) abnormalities • Small eyes • Small head (microcephaly) • Small lower jaw (micrognathia) • Undescended testicle (cryptorchidism)
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Nondisjunction of sex chromosomes
•
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Turner’s syndrome:
• XO: no sex hormones lead to no menstruation and no secondary sex characteristics
• Infertility• Short stature, folds on
neck, more X linked recessive disorders, color blindness, hemophilia etc.
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Trisomy X
• 1 in every 1000 woman have 3 X chromosomes
• Very tall
• Below normal intelligence
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Klinefelter syndrome
• 1 in every 1000 males have XXY
• Most never even know they have it
• partial breast development, widening of the hips and small testis
• These men are usually infertile
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XYY males
• High levels of testosterone
• Severe acne
• More than 6 feet tall
• Lower IQ
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Per 7
• AIM: How can pregnant woman get tested for genetic and chromosomal disorders?
• DO NOW: In your own words, explain what would happen to a zygote if it contained 3 autosome 3’s.
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How are genetic disorders different from chromosomal
disorders?
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Fetal Testing
• Ultrasound
• Amniocentesis
• Chorionic Villus Sampling
• Fetoscopy
• Newborn Screening
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Ultrasound
• Sounds waves are used to produce an image
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Fetoscopy
• Viewing scope is placed into the uterus creating an image
• Enables blood samples to be taken
• Detects Spina bifida• Only done if there is a
history of birth defects
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Amniocentesis• 14th-16th week• 10 mL of amniotic fluid• Looks at chemicals and molecules
present• chromosomal disorders, including
Down’s syndrome, trisomy 13,18,Turner’s syndrome, Kleinfelter’s syndrome
• Sickle Cell, Tay Sachs• spina bifida and anencephaly
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Chorionic Villus Sampling
8th-10th week• Insert through the cervix
into the uterus• Take a tissue sample
from the placenta• Contain fetal cells which
divide more rapidly than amniotic cells
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New born Screening
• Examines newborn blood to detect genetic disorders
• PKU: phenylketonoria
• Tay Sacs
• Treated with diet regulation
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End Friday notes
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Viruses: Genes in packages
• Basically is a piece of nucleic acid surrounded by a protein
• Survives by infecting other cells with its nucleic acid and taking over the cell
• Using the cells organelles to produce new viral cells
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Animal viruses
• Such as influenza or the mumps
• Surrounded by protein coat
• Protein coat attaches to cell membrane and injects its nucleic acid in to the cell cytoplasm
• New viral proteins and mRNA are synthesized and often the animal cell is destroyed
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HIV: Human Immunodeficiency virus
• Virus that causes AIDS: autoimmunodeficiency syndrome
• Similar to the flu and mumps in that it is surrounded by a protein coat
• Its nucleic acid is RNA: it is called a retrovirus
• An RNA virus that reproduces by means of a DNA molecule
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HIV a retrovirus
• Carry molecules of RNA and a specific enzyme called reverse transcriptase
• Reverse transcriptase: cause the synthesis of a DNA strand from an RNA template
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Steps in HIV infection
• Reverse transcriptase makes a single strand of DNA from an RNA template
• The new strand of DNA then builds a second complementary strand
• The resulting double strand then enters the nucleus and inserts itself into the genome: provirus
• NOW EVERY TIME THE CELL DIVIDES THE VIRAL DNA IS REPLICATED AND TRANSCRIBED
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HIV
• Infects and eventually kills several kinds of white blood cells
• Causing the body to become susceptible to many diseases
• SECONDARY infections cause the development of AIDS
• AIDS: collection of symptoms
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Treatment for HIV and AIDS
• Drugs interfere with the reproduction of the virus
• AZT: blocks the synthesis of the HIV DNA by binding to reverse transcriptase during transcription. – Structurally similar to Thymine
• Proteases: inhibit the synthesis of HIV proteins making the virus unable to be transmitted