Genetic stuff Flashcards

1
Q

novel property mutation example and definition

A

sickle cell trait

AA change make new property without changing function of protein

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2
Q

hardy weinberg equation

A

(p+q)^2=P^2+2pq+q^2

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3
Q

what is p^2 in hardy weinberg

A

frequency of homo dominant

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4
Q

what is q^2 in hardy weinberg

A

frequency of homo recessive

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5
Q

what is 2pq in hardy weinberg

A

frequency of heterozygote

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6
Q

what are p and q respectively in hardy weinberg

A

p is frequency of dominant allele and q is frequency of recessive allele

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7
Q

what is q generally equal to in population genetics?

A

the square root of prevalence of autosomal recessive disease

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8
Q

what do we assume p to be about equal to in population genetics?

A

p=1

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9
Q

what does the risk of being a carrier in the population usually equal?

A

square root of prevalence times two

because q is equal to square root of prevalence and p is equal to 1 and the overall risk is equal to 2pq

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10
Q

definition of founder effect in genetics

A

non random distribution of alleles in a population because small number of founding individuals

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11
Q

factor V lieden genetic inheritance pattern, risk and unique aspect

A

autosomal dominant

increases risk of thrombosis..DVT

incomplete penetrance

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12
Q

definition of haploinsufficiency

A

normal physiology requires more than 50% of gene product so with one mutated allele you see effects

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13
Q

dominant negative effect definition

A

abnormal protein interferes with the normal protein being made

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