Indian Journal of Human Genetics
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Year : 2012  |  Volume : 18  |  Issue : 1  |  Page : 43-46

Prevalence of methylenetetrahydrofolate reductase C677T polymorphism in eastern Uttar Pradesh

Department of Biotechnology, Human Molecular Genetics Laboratory, VBS Purvanchal University, Jaunpur, Uttar Pradesh, India

Correspondence Address:
Vandana Rai
Department of Biotechnology, VBS Purvanchal University, Jaunpur - 22001, Uttar Pradesh
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Source of Support: University Grants Commission, New Delhi (grant No. 32-548/2006(SR)) and Department of Biotechnology (No BT/PR98887/SPD/11/1028/2007), Conflict of Interest: None

DOI: 10.4103/0971-6866.96645

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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.

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