Bagheri Morteza, Abdi Rad Isa
Department of Genetics, Urmia University of Medical Sciences, Urmia, Iran.
Maedica (Bucur). 2010 Jul;5(3):171-7.
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.
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.
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.
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.
叶酸代谢途径中的基因-环境相互作用对胚胎发育有很大影响。个体特异性的亚甲基四氢叶酸还原酶（MTHFR）677C/T和1298A/C突变是已知的人类疾病易感性风险因素。因此，我们研究了伊朗阿塞拜疆土耳其族女性普通人群中MTHFR 677CT和1298AC突变的频率。
我们研究了108名来自伊朗阿塞拜疆土耳其族普通人群的无亲缘关系女性。采用标准程序提取基因组DNA。通过聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法测定MTHFR 677CT和1298AC突变。
677位点C和T等位基因的频率（百分比）分别为159（74%）、57（26%），CC、CT和TT基因型的频率分别为59（54.6%）、41（38%）和8（7.41%）。1298位点A和C等位基因的频率（百分比）分别为136（63%）、80（37%），AA、AC和CC基因型的频率分别为43（39.8%）、50（46.3%）和15（13.9%）。
在本研究中，MTHFR 677 C和T等位基因的频率分别为0.74和0.26，而MTHFR 1298 A和C等位基因的频率分别为0.63和0.37。这是关于伊朗阿塞拜疆土耳其族女性的此类首次报告。
