Prevalence of methylenetetrahydrofolate reductase C677T polymorphism in eastern Uttar Pradesh

Aim: This study was aimed to evaluate the 5, 10-methylenetetrahydrofolate reductase (MTHFR) C677T mutation in eastern Uttar Pradesh population.
Materials and Methods: Polymerase chain reaction (PCR) using specific primers followed by amplicon digestion by Hinf I restriction enzyme was used for MTHFR C677T polymorphism analysis. Total 250 subjects were analyzed.
Results: The CC genotype was found in 192 subjects, followed by CT in 56 subjects and TT in 2 subject. Genotype frequencies of CC, CT and TT were 0.768, 0.224 and 0.008, respectively. The frequency of C allele was found to be 0.88 and that of T allele was 0.12.
Conclusion: It is evident from the results of the present study that the percentage of homozygous genotype (CC) is highest in the target population.

Keywords
Allele, C677T polymorphism, genotype, homocysteine, methylation, methylenetetrahydrofolate reductase, Methylenetetrahydrofolate reductase