Exercise A – 1• At nucleotide position 430 in the cytochromeP450 (CYP) 2C9 metabolizing enzyme gene,there are two possible alleles, C and T. Thefrequency of the C allele is 83%. Thefrequency of the T allele is 17%.– What is the wild-type allele?– What is the minor allele?– What are the three possible genotypes?
Exercise A – 2• c.460 G>A exists in the thiopurine-Smethyltransferase (TPMT) gene. In a populationof 100 patients, there are 88 patients with theG/G genotype, 11 patients with the G/Agenotype, and 1 patient with the A/A genotype.– Calculate the frequencies (%) of the followinggenotypes: G/G, G/A, and A/A.– How many alleles are in the population?– What is the frequency (%) of the G allele?– What is the frequency (%) of the A allele?
Exercise A – 3• Please answer the following questions for the rs4244285 geneticvariant. Tip: go to https://www.ncbi.nlm.nih.gov/snp/ and enter“rs4244285” in the search field.– In what gene does the rs4244285 variant exist?– What is the wild-type allele? What is the variant allele?– At what nucleotide position does the allele occur? At what codonposition does the allele occur?– What is the type of genetic variant?– Click on the “ALFA” tab• What is the frequency of the variant allele in the 1000Genomes Europepopulation?• What is the frequency of the variant allele in the 1000Genomes South Asianpopulation?• What is the frequency of the variant allele in the 1000Genomes Globalpopulation?
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