Abstract

Introduction: Gene-environmental interactions in the pathway of folate metabolism influence greatly the embryonic development. Individual specific MTHFR 677C/T and 1298A/C mutations are known as risk factors for predisposition to human disorders. Therefore, we studied the frequencies of the MTHFR 677CT and 1298AC mutations in a female general population from Iranian Azeri Turkish.Material and methods: We studied 108 unrelated women from Iranian Azeri Turkish general population. Genomic DNA was extracted using standard procedure. The MTHFR 677CT and 1298AC mutations determined by PCR-RFLP method.Outcomes: The frequencies (percent) at position 677 for C and T alleles were 159(74%), 57(26%), and for CC, CT, and TT genotypes were 59(54.6%), 41(38%), and 8(7.41%) respectively. The frequencies (percent) at position 1298 for A and C alleles were 136(63%), 80(37%), and for AA, AC, and CC genotypes were 43(39.8%), 50(46.3%), and 15(13.9%) respectively.Conclusions: The frequency of MTHFR 677 C and T alleles were 0.74 and 0.26 while that of MTHFR 1298 A and C alleles were 0.63 and 0.37 in present study, respectively. This is the first report in its own kind in Iranian Azeri Turkish women.