延边州汉族女性MTHFR和MTRR基因遗传多态性调查

Polymorphisms of MTHFR and MTRR among the Han women in Yanbian Prefecture

目的:探讨吉林省延边州汉族女性5,10-亚甲基四氢叶酸还原酶(MTHFR)和甲硫氨酸合成酶还原酶(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:以延边州2620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:延边州汉族女性的MTHFR C677T基因型和等位基因频率,与乌鲁木齐、廊坊、银川、济源、淄博、镇江、湘潭、德阳、惠州、南宁、琼海等地差异有统计学意义(P<0.05)。MTHFR A1298C基因型和等位基因频率,与济源、淄博、镇江、湘潭、德阳、惠州、南宁、琼海等地差异有统计学意义(P<0.05)。MTRR A66G基因型和等位基因频率,与德阳、琼海两地差异有统计学意义,与乌鲁木齐、廊坊、银川、济源、淄博、镇江、湘潭、惠州、南宁等地差异没有统计学意义。结论:延边州汉族女性MTHFR和MTRR基因多态性频率分布具有地域特异性。

Objective： To explore the 5, 10-methylenetetrahydrofolate reductase （MTHFR） and 5-methyltetrahydrofo late-homocysteine methyltransferase reductase （MTRR） gene polymorphisms among the Han women in Yanbian Prefecture. Method： A total of 2620 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 frequency of MTHFR 677TT among Yanbian women is significantly different to Urumqi, Langfang, Yinchuan, Jiyuan, Zibo, Zhenjiang, Xiangtan, Deyang, Huizhou, Nanning and Qionghai （P〈0.05）. The frequency of MTHFR 1298CC is significantly different to Jiyuan, Zi bo, Zhenjiang, Xiangtan, Deyang, Huizhou, Nanning and Qionghai （P〈0.05）. The frequency of MTRR A66GG is significantly different to Deyang and Qionghai, but not different to Urumqi, Langfang, Yinchuan, Jiyuan, Zibo, Zhenjiang, Xiangtan, Huizhou, and Nanning. Conclusion： The MTHFR, MTRR polymorphism distribution of Han women in Yanbian Province is region specific, respectively.