Alkaptonuria is a recessive autosomal genetic disorder that causes darkening of

Question

Alkaptonuria is a recessive autosomal genetic disorder that causes darkening of the urine on exposure to air. In the US, approximately 1/250,000 people have alkaptonuria.

a)   Assuming the population is in H-W equilibrium, estimate q, the frequency of this allele.

b)   What proportion of the US population carries this allele, but is not affected.

c)    Given the following pedigree, what is the probability that child III-1 will have the trait? Note that the woman, II-1 has an affected parent. We know nothing about the father-to-be except he comes from the US.

d)   Because life-threating symptoms of this condition usually don?t start to appear until adulthood, some affected individuals do reproduce. Assuming that the selection coefficient for this trait is s=0.5, estimate the mutation rate, ?.

Explanation / Answer

a ) Hardy-Weinberg equation: p

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