乐山市汉族女性MTHFR和MTRR基因多态性分布研究

Distribution of MTHFR and MTRR gene polymorphisms in Han women of Leshan city

目的针对乐山市汉族女性开展分子流行病学调查,研究叶酸代谢关键酶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。方法以孕期保健的307名汉族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)汉族女性MTHFR 677CC、CT及TT的基因型频率分别为35.5%、48.9%及15.6%,C、T等位基因频率分别为59.9%、40.1%;MTHFR 1298AA、AC及CC的基因型频率分别为64.5%、31.6%及3.9%,A、C等位基因频率分别为80.3%、19.7%;MTRR 66AA、AG及GG的基因型频率分别为54.4%、39.4%及6.2%,A、G等位基因频率分别为74.1%、25.9%。(3)汉族女性MTHFR C677T和A1298C两位点连锁有6种组合,频率最高的是CT/AA(33.9%),没有CT/CC、TT/AC和TT/CC组合。两位点间存在完全连锁不平衡(D'=1.0,r^(2)=0.164)。结论获取乐山市汉族女性MTHFR和MTRR基因多态性的群体遗传学特征。

Objective To carry out a molecular epidemiological survey of Han women in Leshan City to study the genetic polymorphisms of the key enzymes folate metabolism,MTHFR and MTRR.Methods A total of 307 healthy women of Han nationality during pregnancy were used as the research objects.Exfoliated oral mucosal epithelial cells were collected,genomic DNA was extracted,and MTHFR C677 T,A1298 C,and MTRR A66 G gene polymorphisms were detected by fluorescent quantitative PCR for statistical analysis.Results(1)The genetic polymorphism distribution of the subjects was in line with genetic balance.(2)The genotype frequencies of MTHFR 677 CC,CT,and TT of Han females were 35.5%,48.9%,and 15.6%,and the C and T allele frequencies were 59.9%and 40.1%,respectively.The genotype frequencies of MTHFR 1298 AA,AC,and CC were 64.5%,31.6%,3.9%,and the frequencies of the A and C alleles were 80.3%and 19.7%,respectively;the genotype frequencies of MTRR 66 AA,AG,and GG were 54.4%,39.4%,and 6.2%,respectively.The G allele frequencies were 74.1%and 25.9%,respectively.(3)There are 6 combinations of two-point linkage between MTHFR C677 T and A1298 C for Han women.The highest frequency is CT/AA(33.9%),and there is no CT/CC,TT/AC and TT/CC combination.There is a complete linkage disequilibrium between the two points(D’=1.0,r^(2)=0.164).Conclusion To obtain the population genetic characteristics of MTHFR and MTRR gene polymorphisms in Han women of Leshan city.