营口市育龄女性MTHFR与MTRR基因多态性分布研究

Study on the distribution of MTHFR and MTRR gene polymorphism in women of childbearing age in Yingkou City

目的:针对营口市育龄女性开展分子流行病学调查,研究叶酸代谢关键酶MTHFR和MTRR的基因多态性分布。方法:以孕期保健的457名健康女性为研究对象,采集口腔黏膜上皮脱落细胞,抽提基因组DNA,使用荧光定量PCR方法检测MTHFR C677T、A1298C和MTRR A66G基因多态性,进行统计分析。结果:1)入组对象的基因多态性分布符合遗传平衡。2)MTHFR 677CC、CT、TT的基因型频率分别为24.3%、49.0%、26.7%,C、T等位基因频率分别为48.8%、51.2%;MTHFR 1298AA、AC、CC的基因型频率分别为71.6%、26.3%、2.2%,A、C等位基因频率分别为84.7%、15.3%;MTRR 66AA、AG、GG的基因型频率分别为54.9%、38.1%、7.0%,A、G等位基因频率分别为74.0%、26.0%。3)MTHFR C677T和A1298C两位点连锁有7种组合,频率最高的是CT/AA(31.7%),没有TT/AC和TT/CC组合。两位点间存在完全连锁不平衡。结论:获取营口市育龄女性MTHFR和MTRR基因多态性的群体遗传学特征。

Objective:To investigate the molecular polymorphism of the key enzymes of folate metabolism,MTHFR and MTRR,in a molecular epidemiological survey of Childbearing Age women in Yingkou City.Methods:A total of 457 healthy women were enrolled in the study.The oral mucosal epithelial exfoliated cells were harvested,genomic DNA was extracted,and the MTHFR C677T,A1298C and MTRR A66G gene polymorphisms were detected by real-time PCR.Results:1)The distribution of gene polymorphisms in the enrolled subjects was consistent with genetic balance.2)The genotype frequencies of MTHFR 677CC,CT and TT were 24.3%,49.0%and 26.7%,respectively.The frequencies of C and T alleles were 48.8%and 51.2%,respectively.The genotype frequencies of MTHFR 1298AA,AC and CC were respectively 71.6%,26.3%,2.2%,A,C allele frequencies were 84.7%,15.3%;MTRR 66AA,AG,GG genotype frequencies were 54.9%,38.1%,7.0%,A,G,etc.The locus frequencies were 74.0%and 26.0%,respectively.3)There are 7 combinations of MTHFR C677T and A1298C two-point linkage.The highest frequency is CT/AA(31.7%),and there is no combination of TT/AC and TT/CC.There is a complete linkage disequilibrium between the two points.Conclusion:The population genetics of MTHFR and MTRR gene polymorphisms were obtained in women of childbearing age in Yingkou City.