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This research is aimed at genotyping nsSNP rs8052394 in a cohort of Nepalese population using the Polymerase Chain Reaction – Restriction Fragment Length Polymorphism (PCR RFLP) technique. Metallothionein 1A (MT 1A) is a metal binding protein having properties like detoxification of heavy metals, homeostasis of essential metals including copper and zinc and antioxidation against reactive oxygen species. nsSNP rs8052394 (A→G transition) of MT1A shows decrease in the stability of the protein as analysed in silico by MuPro software. 95 subjects were randomly selected within Kathmandu valley. DNA was isolated from blood leukocytes. PCR RFCL technique was used to identify the genotypes. Genotype distribution was in accordance with Hardy-Weinberg Equilibrium (X2 =3.2237, df =1). ‘A’ allele frequency (p=0.79995) was higher than the mutated ‘G’ allele (q=0.20005) in the studied population. Genotype frequency distribution among Gender was not statistically significant (X2 = 2.344, df = 2, p value =0.310). Relatively higher prevalence of rs8052394 polymorphism among Nepalese population was found in this study. Further research on polymorphisms in MT 1A gene will be beneficial in indicating the association of this polymorphism with human health problems like cancer, diabetes, aging, metabolic syndrome and others.
Nonsynonymus Single Nucleotide Polymorphism, Metallothionein, Polymerase Chain Reaction â Restriction Fragment Length Polymorphism