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Year: 2008  |  Volume: 7  |  Issue: 4  |  Page No.: 822 - 825

Genetic Polymorphism of 5, 10-Methylenetetrahydrofolate Reductase C677T in Kashmiri Population

T.A. Bhat, M.R. Mir, I. Qasim, S.S. Misra and M.A. Kirmani    

Abstract: 5, 10-Methylenetetrahydrofolate Reductase (MTHFR) is one of the key enzyme in the metabolism of homocysteine, where it catalyses its remethylation. The autosomal recessive bp C677T mutation in the MTHFR gene leads to the substitution of valine for alanine. Individuals who are homozygous for this C677T mutation exhibit a decreased specific activity and increased thermolability of MTHFR. This leads to increased plasma levels of homocysteine, which is a known risk factor for atherosclerosis and related disease. This study was conducted to find out the distribution and frequency of C677T mutation in the general Kashmiri population by employing PCR-RFLP method for C677T mutation analysis. A group of 110 volunteers (75 males and 35 females) has been analyzed for the MTHFR polymorphism, which revealed the following distribution, 62% individuals were without mutation (C/C), 33% were heterozygous (C/T) and 5% homozygous (T/T).

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