Background: Methylenetetrahydrofolate reductase is an important enzyme which plays a major role in folate metabolism and DNA methylation. The objective of this study was to analyze the MTHFR C677T polymorphism in infertile men.
Study Design: Blood samples were collected from 58 infertile men and 55 control subjects were taken which are fertile. C677T mutation analysis was done by Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) Method.
Results: The present study reveals that 23 Homozygous CC, 28 heterozygous CT, 7 TT were found in infertile men, whereas in control, the allele variations were 38 Homozygous CC, 17 heterozygous CT, but no Homozygous TT was found.
Conclusion: As a result, Genotypes and allele frequencies found in infertile patients and controls but mutant allele was found only in infertile men. Homozygous TT was observed only in azoospermia infertile men whereas heterozygous CT was found in both oligozoospermia and azoospermia subjects. The study has to be extended with a large number of samples.
Key words: Male infertility, MTHFR C677T, Folate, Homocysteine, Azoospermia
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