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目的调查长春市汉族妇女叶酸代谢通路上5,10-亚甲基四氢叶酸还原酶(MTHFR)C677T、A1298C及甲硫氨酸还原酶(MTRR)A66G位点基因多态性的分布特征,为出生缺陷一级预防工作提供遗传学支持。方法应用横断面调查研究方法,选取2014年11月-2016年10月到长春市妇产医院进行孕前及孕期检查的3 405例育龄汉族妇女为研究对象,检测其MTHFR C677T、A1298C及MTRR A66G基因位点多态性,统计分析基因多态性的分布特征,并与已报道的其他地区育龄汉族妇女进行分析比较。结果长春市汉族妇女MTHFR C677T基因型分布与乌鲁木齐、银川、淄博、新乡、镇江、眉山、荆州、九江、湘潭、昆明、惠州、南宁及琼海汉族妇女比较,差异均有统计学意义(均P<0.05);MTHFR A1298C位点基因型分布与淄博、镇江、眉山、荆州、九江、湘潭、昆明、惠州、南宁及琼海汉族妇女比较,差异均有统计学意义(均P<0.05);MTRR A66G位点基因型分布与琼海汉族妇女比较,差异有统计学意义(P<0.05);MTHFR C677T和A1298C两位点间存在完全连锁不平衡现象(D’=0.988,r~2=0.198)。结论长春市汉族妇女MTHFR和MTRR基因多态性频率不同于其他地区,具有地域特异性。
Objective To investigate the distribution of polymorphism of A66G of MTHFR C677T, A1298C and methionine reductase (MTRR) on the folic acid metabolism pathway in Changchun Han women. Primary prevention of birth defects provide genetic support. Methods A total of 3 405 Hanning women of childbearing age from November 2014 to October 2016 in Maternity Hospital of Changchun City from November 2014 to October 2016 were enrolled in this study. The MTHFR C677T, A1298C and MTRR A66G genes Site polymorphism, statistical analysis of genetic polymorphism distribution characteristics, and has been reported in other areas of childbearing age Han women analysis and comparison. Results The distribution of MTHFR C677T genotype in Han nationality women in Changchun was significantly different from that in Han nationality women in Urumqi, Yinchuan, Zibo, Xinxiang, Zhenjiang, Meishan, Jingzhou, Jiujiang, Xiangtan, Kunming, Huizhou, Nanning and Qionghai <0.05). The distribution of MTHFR A1298C locus was significantly different from that of Han women in Zibo, Zhenjiang, Meishan, Jingzhou, Jiujiang, Xiangtan, Kunming, Huizhou, Nanning and Qionghai (all P <0.05) The genotype distribution of A66G locus was significantly different from that of Qionghai Han women (P <0.05). Complete linkage disequilibrium existed between MTHFR C677T and A1298C (D ’= 0.988, r = 2 = 0.198) . Conclusions The frequencies of MTHFR and MTRR gene polymorphisms in Han nationality women in Changchun are different from those in other regions and are regionally specific.