title: Frequency of the Methylenetetrahydrofolate REDUCTASE 677CT and 1298AC mutations in an Iranian Turkish female population.
abstract: BACKGROUND
  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.
  
  
  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.
  
  
  RESULTS
  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.
authors: Department of Genetics, Urmia University of Medical Sciences, Urmia, Iran.
authors: Morteza
authors: M
authors: Bagheri
authors: Isa
authors: I
authors: Abdi Rad