琼海市汉族女性MTHFR和MTRR基因多态性分布研究

目的:分析琼海市汉族女性叶酸代谢相关酶5,10-亚甲基四氢叶酸还原酶(MTHFR)和甲硫氨酸合成酶还原酶(MTRR)的基因多态性分布特征。方法:以琼海市1166例汉族女性为研究对象,以其口腔黏膜上皮细胞提取基因组DNA,通过荧光定量PCR法对MTHFR和MTRR的多态性位点进行分析,获得琼海市妇女该基因的分布特征,并与已报道的其他地区的数据进行比较。结果:琼海市汉族女性MTHFR 677TT纯合突变基因的频率为6.2%,与潍坊、郑州、德阳以及镇江相比,差异均有统计学意义(P<0.05)。MTHFR 1 298CC纯合突变基因的频率为7.1%,低于潍坊、郑州、镇江(P<0.05),与德阳相比差异无统计学意义(P>0.05)。MTRR 66GG纯合突变基因的频率为9.3%,均高于上述城市(P<0.05)。结论:琼海市女性MTHFR和MTRR基因多态性的分布情况不同于其他地区,具有区域特异性。

Polymorphisms of MTHFR and MTRR among the Han nationality women in Qionghai city

Objective: Analyze genotype distributions of MTHFR and MTRR in Han nationality women of Qionghai city.Methods: This study included 1166 Han nationality women.Collected their oral epithelial cells to extract genome DNA for detecting SNPs of MTHFR and MTRR with fluorescence quantitative PCR.And then compared the distribution frequency of MTHFR and MTRR with data of other cities.Results: The frequencies of MTHFR C677T in Qionghai women are significantly different from that of Weifang,Zhengzhou,Deyang and Zhenjiang(P<0.05).The frequency of MTHFR1298CC was 7.1%,which is lower than Weifang,Zhengzhou and Zhenjiang(P<0.05) but it was not significantly different from Deyang.The frequency of MTRR 66GG was 9.3%,which is higher all the above mentioned cities.Conclusions: MTHFR polymorphism distribution in Qionghai women is high showing regional features.