苏州育龄女性MTHFR和MTRR基因多态性研究

Polymorphism Analysis of MTHFR and MTRR Among Women of Childbearing Age in Suzhou

目的:分析苏州女性叶酸代谢相关基因MTHFR和MTRR的基因多态性分布特征。方法:以1 985例苏州育龄女性为研究对象,采集口腔黏膜上皮细胞,提取其基因组DNA后荧光定量PCR法分析其MTHFR C677T位点、A1298C位点和MTRR A66G位点的基因多态性,并与新疆、长春、郑州、镇江、广州等地区比较。结果:苏州女性的MTHFR C677T TT纯合突变基因型频率为19.0%,低于长春、烟台、郑州、镇江和上海,高于湖北、广州、海南,总体呈北高南低趋势;MTHFR A1298C CC纯合突变基因型频率为2.8%,高于长春、烟台、郑州,低于湖北、广州、海南,总体呈北低南高趋势;MTRR A66G GG纯合突变基因型频率仅与烟台、广州、海南有统计学差异,基因多态性分布的地域差别不明显。结论:苏州女性MTHFR和MTRR基因多态性分布情况具有地区差异性。

Objective: To analyze the genetic polymorphisms of MTHFR and MTRR genes related to folate metabolism in Suzhou women of childbearing age. Method: Taking 1 985 women of childbearing age in Suzhou as the research object, the oral mucosal epithelial cells was collected. The gene polymorphisms at MTHFR C677T, A1298C and MTRR A66G was analyzed by fluorescence quantitative PCR, and compared with Xinjiang, Changchun, Zhengzhou,Zhenjiang, Guangzhou and other regions. Results: The frequency of TT homogeneous mutant genotype of MTHFR C677T was 19.0%,which was lower than those in Changchun, Yantai, Zhengzhou, Zhenjiang and Shanghai, higher than those in Hubei, Guangzhou and Hainan. The genotype and allele frequency of MTHFR C677T showed a decreasing trend from north to south;The frequency of CC homogeneous mutant genotype of MTHFR A1298C was 2.8%,which was higher than those in Changchun, Yantai and Zhengzhou, lower than those in Hubei, Guangzhou and Hainan;The genotype and allele frequency of MTHFR A1298C showed an increasing trend from north to south;The frequency of GG homogeneous mutant genotype of MTRR A66G was only different from Yantai, Guangzhou and Hainan. There was no significant difference between Suzhou and the other cities. Conclusion: The distribution of MTHFR and MTRR gene polymorphisms in Suzhou women is different from other regions and has regional differences.