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目的探讨武汉市汉族女性亚甲基四氢叶酸还原酶(MTHFR)C677T基因多态性的分布特征,为本地区育龄女性个性化孕期保健奠定遗传学基础。方法通过横断面调查研究武汉市1 438例育龄汉族女性MTHFR C677T基因型,采用统计学方法分析MTHFR C677T基因多态性分布特征在不同年龄、地域之间的差异。结果武汉市MTHFR C677T基因型中CC、CT、TT基因型频率分别是37.1%、47.3%、15.6%,本地区汉族女性MTHFR C677T基因型频率及等位基因频率与其他非湖北省城市(乌鲁木齐、延边、长春、廊坊、烟台、郑州、湘潭、九江、镇江、南宁、琼海)比较差异有统计学意义(P<0.05),与湖北省内其他城市(建始、荆州)相比差异无统计学意义(P>0.05)。MTHFR C677T基因多态性分布在各年龄组间差异无统计学意义(P>0.05)。结论武汉市女性MTHFR C677T基因多态性分布与其他地区相比有一定差异,具有地区特征性。
Objective To investigate the distribution of methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism in Han women in Wuhan and to lay a genetic basis for individualized prenatal care for women of childbearing age in this area. Methods A cross-sectional study was conducted to investigate the genotype of MTHFR C677T in 1 438 Han women of childbearing age in Wuhan. The distribution of MTHFR C677T polymorphism in different ages and regions was analyzed by statistical methods. Results The frequencies of MTHFR C677T genotypes in Wuhan were 37.1%, 47.3% and 15.6%, respectively. The frequencies of MTHFR C677T genotypes and alleles in Han women in this region were significantly lower than those in other non-Hubei cities (Urumqi, Yanbian, Changchun, Langfang, Yantai, Zhengzhou, Xiangtan, Jiujiang, Zhenjiang, Nanning and Qionghai) were statistically significant (P <0.05), but no significant difference compared with other cities in Hubei Province (Jianshi and Jingzhou) Significance (P> 0.05). There was no significant difference in the distribution of MTHFR C677T polymorphism among all age groups (P> 0.05). Conclusions The distribution of MTHFR C677T gene polymorphism in Wuhan women is different from other regions in terms of geographical distribution.