张家港市汉族女性MTHFR与MTRR基因多态性分布

The distribution of gene polymorphism of methylenetetrahydrofolate reductase and methionine synthase among Han women in Zhangjiagang city

目的探讨张家港市汉族女性MTHFR、MTRR基因多态性的频率特征,以指导孕妇增补叶酸和出生缺陷一级预防。方法以张家港市4008例汉族女性为研究对象,检测MTHFR C677T、A1298C和MTRR A66G的基因分型。统计分析基因多态性的频率特征,并与已报道的其他地区汉族女性的数据进行比较。结果张家港市汉族女性的MTHFR C677T位点CC、CT和TT基因型频率分别为32.2%、49.5%和18.3%。C等位基因频率为64.3%,T等位基因频率为35.7%。MTHFR A1298C位AA、AC和CC基因型频率分别为68.7%、28.7%和2.5%。A等位基因频率为80.8%,C等位基因频率为19.2%。MTRR A66G位点AA、AG和GG基因型频率分别为54.4%、38.5%和7.1%。A等位基因频率为76.3%,G等位基因频率为26.4%。结论张家港市汉族女性MTHFR和MTRR基因多态性频率具有地域特异性。

Objective To explore the 5,10-methylenetetrahydrofolate reductase （MTHFR） and 5-methyltetrahydro- folate-homocysteine methyhransferase reductase （MTRR） gene polymorphisms among the Han women in Zhangjiagang city. Methods A total of 4008 Han women were recruited. Their oral epithelial cells were collected to extract genome DNA in order to detect gene polymorphisms of MTHFR and MTRR using fluorescence quantitative PCR. Then the results were compared with those in other cities in China. Results The genotype frequencies of MTHFR C677T CC, CT and qq＇ among Zhangjiagang women are 32.2% , 49.5% and 18.3% , respectively. The C allele frequency is 64. 3% , T allele frequency is 35.7%. The genotype frequencies of MTHFR A1298C AA, AC and CC are 68.7% ,28.7% and 2.5% , respectively. The A allele frequency is 80.8% , C allele frequency is 19.2%. The genotype frequencies of MTRR A66G AA, AG and GG are 54. 4%, 38.5% and 7. 1%, respectively.The A allele frequency is 76. 3% , G allele frequency is 26.4%. Conclusions The MTHFR, MTRR polymorphism distribution of Han women in Zhangjiagang city is region specific