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Phenylketonuria (PKU) is an autosomal recessive disorder in which phenylalanine accumulates in the body, resulting inbrain...

Phenylketonuria (PKU) is an autosomal recessive disorder in which phenylalanine accumulates in the body, resulting inbrain damage, intellectual disabilities, behavioral symptoms, or seizures. PKU affects approximately 1 in 12,000 people living in the United States. What is the frequency of heterozygous carriers of the PKU allele within the U.S. population? (Assume Hardy-Weinberg equilibrium)

Group of answer choices

1.80%

0.02%

99.99%

0.90%

0.01%

Expert Solution

Hardy-Weinberg equilibrium

The Hardy-Weinberg principle, also known as the Hardy-Weinberg equilibrium, model, theorem, or law, states that allele and genotype frequencies in a population will remain constant from generation to generation in the absence of other evolutionary influences. These influences include - mate choice, mutation, selection, genetic drift, gene flow.

7 assumptions underlying Hardy-Weinberg equilibrium is as follows,

organisms are diploid
only sexual reproduction occurs
generations are nonoverlapping
mating is random
population size is infinitely large
allele frequencies are equal in the sexes
there is no migration, mutation or selection.

To estimate the frequency of alleles in a population one must understand the basics of the Hardy-Weinberg equation:

p = the frequency of the dominant allele (represented here by A)
q = the frequency of the recessive allele (represented here by a)

For a population in genetic equilibrium: p2 + 2pq + q2= 1

p2= frequency of AA (homozygous dominant)
2pq= frequency of Aa (heterozygous)
q2= frequency of aa (homozygous recessive)

q2= 1/10,000
q =√ 1/10,00=1/100
p = 1 (does not change from "1" in most equations)
2pq = 2 (1) (1/100) = 1/50

1/50 individuals in the general population are carriers of PKU. So the answer is 0.02%.

gladiator answered 2 years ago

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