惠州汉族女性亚甲基四氢叶酸还原酶和甲硫氨酸合成还原酶的基因多态性分布

【目的】 研究广东省惠州市汉族女性亚甲基四氢叶酸还原酶(MTHFR)C677T?A1298C及甲硫氨酸合成还原酶(MTRR)A66G基因多态性的分布特征?【方法】 采用横断面调查研究方法,以惠州市359例汉族女性为对象,采集口腔黏膜上皮细胞,提取基因组DNA,采用Taqman-MGB技术,进行MTHFR和MTRR基因多态性检测?统计分析基因多态性的分布特征,并与已报道的其他地区的数据进行比较?【结果】 惠州市汉族女性的MTHFR 677TT纯合突变基因型频率为10.9%,高于四川德阳的8.6%,低于山东潍坊的41.8%和河南郑州的34.5%(P < 0.05);MTHFR 1298CC纯合突变基因型频率为7.2%,高于潍坊的1.2%和郑州的2.7%(P < 0.05);MTRR 66GG纯合突变基因型频率为5.6%,低于海南地区的9.1%(P < 0.05)?【结论】 惠州市汉族女性有不同于其他地区的MTHFR和MTRR基因多态性分布特征?

Polymorphism Distribution of Methylenetetrahydrofolate Reductase and Methionine Synthase Reductase among the Han Women in Huizhou

【Objective】 To explore the gene polymorphisms distribution of methylenetetrahydrofolate reductase (MTHFR) C677T, A1298C and methionine synthase reductase (MTRR) A66G among the Han female in Huizhou, Guangdong. 【Methods】 A cross-sectional study was used. A total of 359 oral epithelial cells samples from recruited Han women in Huizhou were collected. The detections of MTHFR and MTRR gene polymorphisms were conducted with Taqman-MGB technology. The distribution of gene polymorphisms was analyzed and compared with partial regions of China, which are Weifang, Zhengzhou, Deyang City and Hainan Province. 【Results】 The frequencies of MTHFR C677T CC, CT and TT genotypes among the Han women in Huizhou were 51.8%, 37.3%, and 10.9%. The frequencies of the MTHFR A1298C AA, AC and CC genotypes in Huizhou Han women were 61.6%, 31.2%, and 7.2% and the frequencies of the MTRR A66G AA, AG and GG genotypes were 54.6%, 39.8%, and 5.6%. Compared with partial regions, the study found that the genotype of MTHFR C677T among the Han women in Huizhou showed statistical difference from that in Weifang, Zhengzhou, and Deyang (P < 0.05). The genotype of MTHFR A1298C in Huizhou Han women showed statistical difference from that in Weifang and Zhengzhou (P < 0.01). The genotype of MTRR A66G in Huizhou Han women showed statistical difference from that in Hainan (P < 0.05) while no difference was found when compared with other regions(P > 0.05). 【Conclusions】 The gene polymorphisms distribution of MTHFR C677T, A1298C and MTRR A66G among the Han women in Huizhou were found to be statistically different from partial regions of China.