2.Two different single nucleotide polymorphisms in the ataxia telangiectasia mut

Question

2.Two different single nucleotide polymorphisms in the ataxia telangiectasia mutated (ATM) gene (rs11212617) 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, C1 and C2 alleles in this population. '

Genotype AA AC1 C1C1 AC2 C2C2 C1C2

Frequency 0.49 0.406 0.0841 0.014 0.0001 0.0058

3. Cystic fibrosis is a recessive condition with a simple genetic basis. Cystic fibrosis sufferers result when an individual inherits two copies of a defective CFTR gene (the CFTR gene produces a protein involved in the production of sweat, digestive fluids and mucus). The data in Table 1 are from a sample of 2,987 Canadians and the functional and defective alleles are denoted CFTR and CFTR- respectively:

Genotype: CFTR/CFTR CFTR/CFTR- CFTR-/CFTR-

# of individuals: 2886 100 1

What are the frequencies of the CFTR and CFTR- alleles in this sample?

Explanation / Answer

2.

The frequencies of the alleles A,C1 and C2 are

Frequency of allele A = 0.49+0.406*0.5+0.014*0.5 = 0.7

Frequency of allele C1 = 0.406*0.5+0.0841+0.0058*0.5 = 0.29

Frequency of allele C2 = 0.014*0.5+0.0001+0.058*0.5 = 0.01

3.

number of

individuals

The frequency of the alleles CFTR and CFTR- are:

frequency of the allele CFTR = 0.9662+ 0.03347*0.5 = 0.9829

frequency of the allele CFTR- = 0.03347+0.00033*0.5 = 0.01717

Genotype Frequency AA 0.49 AC1 0.406 C1C1 0.0841 AC2 0.014 C2C2 0.0001 C1C2 0.0058

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