基础医学与临床 ›› 2015, Vol. 35 ›› Issue (9): 1228-1231.

• 研究论文 • 上一篇    下一篇

张家港市汉族女性MTHFR与MTRR基因多态性分布

李欣欣1,鲁衍强2,马少杰2,龚明霞1,袁亚琴1,黄云霞1,张忠良1,杨琦3   

  1. 1. 张家港市妇幼保健所
    2. 上海靶向分子医学研究所
    3. 中国疾病预防控制中心妇幼保健中心
  • 收稿日期:2015-02-11 修回日期:2015-05-27 出版日期:2015-09-05 发布日期:2015-09-07
  • 通讯作者: 马少杰 E-mail:mashaojie@genechina.com

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

  • Received:2015-02-11 Revised:2015-05-27 Online:2015-09-05 Published:2015-09-07

摘要: 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。

关键词: 亚甲基四氢叶酸还原酶, 甲硫氨酸合成酶还原酶, 单核苷酸多态性

Abstract: Objective To explore the 5,10-methylenetetrahydrofolate reductase (MTHFR) and 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR) gene polymorphisms among the Han women in Zhangjiagang city. Method A total of 4008 Han women were recruited. And 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 TT among Zhangjiagang women are 32.2%, 49.5% and 18.3% 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%. Conclusion The MTHFR, MTRR polymorphism distribution of Han women in Zhangjiagang city is region specific.

Key words: Methylenetetrahydrofolate reductase, Methionine synthase reductase, Single nucleotide