6) Two different single nucleotide polymorphisms in the ataxia telangiectasia mu

Question

6) Two different single nucleotide polymorphisms in the ataxia telangiectasia mutated (ATM) gene (rs 1 1212617) are associated with the response to the glucose-lowering drug metformin which is used in treating type 2 diabetes. These alleles vary in frequency among ethnic populations. In a particular South Indian population, the following genotype frequencies were observed. Calculate the frequencies of the A, Cl and C2 alleles in this population. GenotypeA AC CICI AC2 C2C2 CIC2 Frequency0.49 0.406 0.0841 0.014 0.0001 0.0058

Explanation / Answer

(p + q + r)2 = p2 + q2 + r2 + 2pq + 2qr + 2rp

p + q+ r = 1

(p2)+(q2)+(r2)+(2pq)+(2qr)+(2rp)=1

(p2)+(0.0841)+(0.0001)+(0.406)+(0.0058)+(0.014)=1

1-(p2)=0.51

A = p= 0.7

(0.49)+(q2)+(0.0001)+(0.406)+(0.0058)+(0.014)=1

0.915 + (q2) = 1

q2 = 0.085

C1 = q = 0.29

p + q + r = 1

therefore,

r = 1 - (p+q)

r = 1 - 0.99

C2 = r = 0.01

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