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24 Cards in this Set
- Front
- Back
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silent mutation
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base change that still results in same AA
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missense mutation
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single AA change
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nonsense mutation
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premature termination of protein
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frame shift
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deletion/insertion of 1-2 base pairs
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damaged repair mechanism for xeroderma pigmentosum
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single strand nucleotide excision repair
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damaged repair mechanism for hereditary nonpolyposis colon cancer
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single strand mismatch repair
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promoter
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upstream sequence where RNA polymerase binds
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enhancer
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DNA that binds transciption factors, may be far from gene (DNA can fold)
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operator
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site where repressors bind
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codominance
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neither of 2 alleles is dominant
(blood groups) |
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variable expression
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expression or severity varies by individual
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incomplete penetrance
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not all with genotype exhibit phenotype
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pleiotropy
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1 gene expresses multiple characteristics
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imprinting
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phenotype varies depending on maternal vs. paternal mutation
(Angelman vs. Prader-Willi) |
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anticipation
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onset or severity increases in successive generations
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loss of heterozygosity
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inherited 1 bad allele; other allele must be mutated for expression
(tumor suppressor genes) |
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dominant negative mutation
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heterozygosity prevents any expression
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linkage disequilibrium
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tendency for 2 loci to occur together more often
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mosaicism
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cells vary in genetic makeup
(X inactivation in females) |
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locus heterogeneity
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mutations at different loci exhibit same phenotype
(albinism) |
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Hardy-Weinberg
formulas |
Alleles: p + q = 1
Disease prev: p² + 2pq + q² = 1 Assumptions: 1. no mutations at locus 2. no natural selection 3. mating is random 4. no population migrations |
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X-linked recessive
inheritance |
no male to male transmission
mother to son 50% mother to daughters only if dad affected |
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X-linked dominant
inheritance |
transmitted by either parent
father to daughter 100% |
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mitochondrial
inheritance |
only transmitted by mother
may affect all children |
