安徽地区汉族孕妇人群MTHFR基因多态性研究

Polymorphism of MTHFR Among Pregnant Woman in Anhui Province

目的探讨安徽地区孕妇编码叶酸代谢通路中关键酶的基因亚甲基四氢叶酸还原酶(MTHFR)C677T位点的基因型及等位基因的频率分布,以指导孕妇孕期合理补充叶酸。方法采用PCR-芯片杂交法,对2016~2017年采集的484例安徽地区孕妇外周血样本进行基因型测定,并与其他地区人群的数据进行比较。结果安徽地区汉族孕妇MTHFR C677T的3种基因型CC、TC和TT频率分别为25.2%、49.2%和25.6%,与山东、四川、云南、广东以及海南地区女性人群等位基因频率的差异有统计学意义(P<0.05)。结论 MTHFR基因C677T多态性分布具有地区差异,安徽地区50%以上的育龄女性携带高风险基因,基于C677T多态性检测的孕期叶酸个体化用药指导将是进一步降低出生缺陷的重要方法。

Objective To investigate the genotype distribution of the methylenetetrahydrofolate reductase （MTHFR） C677T essential for the folic acid biosynthetic pathway among Chinese Han pregnant women in Anhui province, so as to provide pregnant women with guidance of supplementing folic acid. Methods By mean of PCR- chip hybridization method, 484 samples collected from Anhui province were detected the genotype distributions and allele frequencies of MTHFR C677T, then, the results were compared with published data in other 9 provinces of China. Results In Anhui Han pregnant women population, the CC, TC, and TT genotypic frequencies of SNP C677T were 25.2 % ,49.2 % and 25.6 %, respectively. Significant different of genotypic frequencies have been observed between Anhui women population and Shandong, Sichuan, Yunnan and Hainan women population （P〈0.05） . Conclusion The distributions of C677T in the MTHFR gene showed geographical variations. The polymorphisms of MTHFR may play a role in birth defects risk, thus, periconceptional folic acid supplementation and healthcare following gene polymorphism investigation may be a powerful measure to decrease congenital malformations.