寿光市汉族女性MTHFR与MTRR基因多态性研究

Polymorphisms of MTHFR and MTRR among the Han women in Shouguang City

目的研究山东省寿光市汉族女性MTHFR、MTRR基因多态性。方法采用荧光定量PCR方法检测寿光市787名汉族女性的MTHFR C677T、A1298C和MTRR A66G位点的多态性。统计分析以上位点的基因频率和基因型频率,并与其他地区汉族女性的统计数据进行比较。结果寿光市汉族女性的MTHFR C677T基因型和等位基因频率,与郑州、烟台、镇江、武汉、昆明、德阳、惠州、琼海等地差异有统计学意义(P<0.05)。MTHFR A1298C基因型和等位基因频率,与烟台、镇江、武汉、昆明、德阳、惠州、琼海等地差异有统计学意义(P<0.05)。MTRR A66G基因型和等位基因频率,与琼海地区差异有统计学意义(P<0.05)。结论寿光市汉族女性MTHFR C677T、A1298C和MTRR A66G位点分布不同于其他地区,存在明显差异。

Objective To explore the 5,10-methylenetetrahydrofolate reductase （MTHFR） and 5-methyltetrahydrofo-late-homocysteine methyltransferase reductase （MTRR） gene polymorphisms among the Han women in Shouguang City. Methods A total of 787 Han women were recruited. And their oral epithelial cells were collected to extract genome DNA in order to detect gene polymorphisms of MTHFR C677T, A1298C and MTRR A66G using fluorescence quantita-tive PCR. Then the results were compared with those in other cities in China. Results The frequency distribution of MTHFR C677T among Shouguang women was significantly different with Zhengzhou, Yantai, Zhenjiang, Wuhan, Deyang, Kunming, Huizhou, Qionghai （P 〈 0.05）. The frequency distribution of MTHFR A1298C among Shouguang women was significantly different with Yantai, Zhenjiang, Wuhan, Deyang, Kunming, Huizhou, Qionghai （P〈0.05）. The frequency distribution of MTRR A66G among Shouguang women was significantly different with Qionghai （P〈 0.05）. Conclusion The MTHFR C677T, A1298C and MTRR A66G polymorphism distributions of Han women in Shouguang City are different with other regions, which have visible difference.