目的探讨山东省济源市汉族女性MTHFR、MTRR基因多态性的频率特征,为孕妇增补叶酸和神经管畸形一级预防提供依据。方法以济源市564例孕前及孕早期的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。结果济源市汉族女性的MTHFR C677T基因型和等位基因频率,与烟台、镇江、松滋、德阳、昆明、广州、琼海等地比较差异有统计学意义(P<0.05)。MTHFR A1298C基因型和等位基因频率,与镇江、松滋、德阳、昆明、广州、琼海等地比较差异有统计学意义。MTRR A66G等位基因频率,与德阳、广州、琼海等地比较差异有统计学意义。结论济源市汉族女性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 explore the frequency characteristics of 5,10-methylenetetrahydrofolate reductase( MTHFR) and 5-methyltetrahydrofolate-homocysteine methyltransferase reductase(MTRR) gene polymorphisms among the Han women in JiYuan City.To provide the basis for pregnant women folic acid supplementation and primary prevention of neural tube defects. Method A total of564 Han nationality and pre-pregnant or early pregnancy 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. Analyzed the frequency characteristics of gene polymorphism and the results were compared with those Han women in other cities in China. Results The frequency of MTHFR C677 TT among Jiyuan women had statistically significant differences with Yantai,Zhenjiang,Songzi,Deyang,Kunming,Guangzhou,Qionghai etc( P < 0. 05). The frequency of MTHFR 1298 CC is significantly different to Zhenjiang,Wuhan,Deyang,Kunming,Guangzhou,Qionghai( P < 0. 05). The frequency of MTRR 66 GG is significantly different to Deyang,Guangzhou,Qionghai( P < 0. 05). Conclusion The MTHFR,MTRR polymorphism distribution of Han women in Jiyuan city is different from other region,with regional specificity.