长治市女性亚甲基四氢叶酸还原酶基因多态性分析

Polymorphisms of methylenetetrahydrofolate reductase gene among women in Changzhi

目的了解亚甲基四氢叶酸还原酶(MTHFR)C677T基因多态性在长治女性人群的分布情况。方法采用实时荧光定量聚合酶链反应(q PCR)方法,对829例女性的MTHFR C677T基因多态性进行检测。结果本地区女性人群MTHFR 677位点CC、CT、TT基因型频率分别为17.61%,45.11%,37.27%;C和T等位基因频率为40.17%和59.83%。本地区女性MTHFR的基因型和等位基因频率与郑州、廊坊地区比较差异无统计学意义(P>0.05),与珠海、云南、温州、苏州、西安、长春、齐齐哈尔女性比较差异有统计学意义(P<0.05)。结论本研究中MTHFR C677T基因多态性在女性人群中的分布符合Hardy-Weinberg平衡,为本地女性优生优育及叶酸代谢相关疾病提供流行病学资料。

Objective To investigate the distribution of methylenetetrahydrofolate reductase(MTHFR) C677 T gene polymorphism in female population of Changzhi. Methods The MTHFR C677 T gene polymorphism was detected in 829 women by real-time fluorescent quantitative PCR. Results The frequencies of CC, CT and TT genotypes of MTHFR at locus 677 in the studied female population were 17.61%, 45.11% and 37.27%, respectively. The C and T allele frequencies were 40% and 59.83%, respectively. The genotypes and allele frequencies of MTHFR among fe-males living in Changzhi were comparable with those living in Zhengzhou and Langfang(P>0.05), but were statistically different compared with women living in Zhuhai, Yunnan, Wenzhou, Suzhou, Xi′an, Changchun and Qiqihar(P<0.05).Conclusion The distribution of MTHFR C677 T gene polymorphism in female population in Changzhi follows the Hardy-Weinberg equilibrium, which is epidemiologically relevant for prenatal care and treatment of folate metabolism related diseases.