湖北省利川市育龄妇女亚甲基四氢叶酸还原酶和甲硫氨酸合成酶还原酶基因多态性分布研究

Distribution of methylenetetrahydrofolate reductase and methionine synthase reductase gene polymorphisms in women of child-bearing age at Lichuan City, Hubei Province

目的比较湖北省恩施州利川市人民医院土家族和汉族育龄妇女亚甲基四氢叶酸还原酶(MTHFR)C667T、A1298C基因位点及甲硫氨酸合成酶还原酶(MTRR)A66G基因位点多态性分布的情况,研究其位点的群体遗传性特征。方法以2015年1月～2017年12月在湖北省恩施州利川市人民医院建卡的681例汉族和553例土家族孕期女性作为研究对象,采集口腔黏膜上皮细胞提取DNA样本,采用Taqman-MGB技术进行MTHFR和MTRR基因多态性检测,并统计分析基因多态性的分布特征与已报道其他地区的数据进行比较。结果湖北省恩施州利川市人民医院土家族女性的MTHFR C677T位点的等位基因频率与延边朝鲜族、南宁壮族、乌苏哈萨克族、银川回族妇女比较,差异有统计学意义(P<0.05);MTHFR A1298C位点的等位基因频率与南宁壮族、乌苏哈萨克族妇女比较,差异有统计学意义(P<0.05);利川土家族妇女MTRR A66G位点的等位基因频率与乌苏哈萨克族、新疆维吾尔族妇女比较,差异有统计学意义(P<0.05)。利川土家族MTHFR C677T和A1298C两位点存在完全连锁不平衡现象(D′=1.0,r2=0.508)。利川市汉族MTHFR C677T和A1298C两位点存在完全连锁不平衡现象(D′=1.0,r2=0.424)。结论湖北省恩施州利川市土家族和汉族MTHFR和MTRR的基因多态性分布差异性并不显著,但其地区妇女的上述基因分布具有区域特异性,不同于其他地区。

Objective To compare the C667T and A1298C loci of methylenetetrahydrofolate reductase (MTHFR) and the methionine synthetase reductase (MTRR) A66G locus among Tujia and Han women of reproductive age in the People′s Hospital of Lichuan City, Enshi Prefecture, Hubei Province. For the case of point polymorphism distribution, the hereditary characteristics of the locus were studied. Methods A total of 681 cases of Han and 553 cases of Tujia fertile women were selected as subjects, from those building cards at Lichuan People′s Hospital of Hubei Province from January, 2015 to December 2017. Oral epithelial cells were collected to extract genome DNA, Taqman-MGB technology was used to detect MTHFR and MTRR gene polymorphisms, and then compared with those in other nationalities in China. Results The gene frequency of MTHFR C677T locus of Tujia women in Lichuan People′s Hospital of Enshi Prefecture, Hubei Province was compared with that of Yanbian Korean, Nanning Zhuang, Ursukazak and Yinchuan Hui women, the differences were statistically significant (P<0.05). The gene frequency at the MTHFR A1298C site was statistically significant compared with that of the Nanning Zhuang and Ursukazak women, the differences were statistically significant (P<0.05). The gene frequency at the MTRR A66G site was compared with that of Ursukazak and Xinjiang Uygur women, and the differences were statistically significant (P<0.05). There was a complete linkage disequilibrium between the two points of MTHFR C677T and A1298C of Tujia in Lichuan City (D′=1.0, r2=0.508). There was a complete linkage disequilibrium between two sites of MTHFR C677T and A1298C of Han nationality in Lichuan City (D′=1.0, r2=0.424). Conclusion There is no significant difference in the polymorphism distribution of MTHFR and MTRR between Tujia and Han populations in Lichuan City, Enshi Prefecture, Hubei Province. However, the above gene distribution in women in the region is region-specific and different from other regions.