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21 Cards in this Set
- Front
- Back
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Where do mutations occur?
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Only in DNA sequence -> thus only affects mRNA expression rather than protein sequences (promoters + enxhancers/silencers)
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Cryptic sites
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Is a better splice site
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Define: loss of function mutations
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Protein has no activity (ie active site mutated)
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Define: gain of function mutations
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Protein has new or greater activity (ie new substrate specificity or constitutive activity)
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What is the mutation in sickle cell anemia
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Glutamate 6-> valine
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Define:thalassemias
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Defect in production of either alpha or beta-globin -> leads to splenomegaly
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What is the MOA of damage from ionizing radiation?
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x-ray -> ractive radicals -> dsDNA breaks
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What is the MOA of damage from non-ionizing radiation
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Shifts electrons -> pyrimidine dimers from UV
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What is the MOA of damage from chemicals?
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Base analog insert -> react -> change -> deamination (C-> U)
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Hot spots
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Human CpG dimers usually methylated -> deaminate methyl C -> T
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Xeroderma pigmentosum
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Defect in nucleotide excision repair -> cant repair pyrimidine dimers caused by UV
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What happens when u give a person the wrong blood type blood?
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Causes hemolytic reaction in mismatched transfusion
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What is the hardy-weinberg rule?
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Randomly mating population -> estimate frequency of gene variants; p^2 + 2pq + q^2 =1
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Define: natural selection
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Survival or reproductive advantage
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Define: genetic drift
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Change w/time
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Define: gene flow
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Mixing populations
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Define: founder effect
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Small number -> large effects
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Define: tandem repeats
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Repeating DNA - Variable number of Tandem Repeats (VNTRs)
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How many BP is a short tandem repeat
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2-4 nucleotides long (aka STRPSs)
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DNA fingerprinting 1.0
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Uses minisatellite DNA
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DNA fingerprinting 2.0
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Uses microsatellite DNA + PCR
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