广东地区汉族育龄妇女MTHFR基因遗传多态性

目的调查并分析广东地区汉族育龄妇女MTHFR基因多态性分布情况。方法选取2016年1月至2018年7月广东省妇幼保健院行婚检/孕检的育龄妇女13336例,采用Taqman-MGB法测定MTHFR基因C677T、A1298C位点的基因型,并采用卡方检验比较本地人群与其他人群的基因型频率/等位基因频率的分布情况。结果MTHFR基因C667T位点野生型(CC)、杂合突变型(CT)和纯合突变型(TT)分别占51.5%、38.7%和9.8%,突变T基因频率为29.2%;MTHFR基因A1298C位点中,野生型(AA)、杂合突变型(AC)和纯合突变型(CC)分别占59.3%、35.2%和5.5%,突变C基因频率为23.1%。广东地区汉族育龄妇女MTHFR基因C677T、A1298C位点基因型分布和等位基因频率分布与全国人群比较差异均有统计学意义(P<0.01)。广东地区汉族育龄妇女MTHFR基因C677T、A1298C位点的基因频率和等位基因频率与江苏、九江、齐齐哈尔和长沙等地区汉族育龄妇女人群相比差异均有统计学意义(P<0.05)。广东地区汉族育龄妇女MTHFR基因C677T、A1298C位点的等位基因频率与亚洲、东亚、南亚、欧洲、美洲地区人群等位基因频率的分布存在不同程度的差异。结论广东地区人群MTHFR基因的多态性分布与其他地区相比存在明显的差异。

Genetic polymorphism analysis of MTHFR gene in Han women of childbearing age in Guangdong province

Objective To investigate the distribution of MTHFR gene polymorphism in Han women of childbearing age in Guangdong Province.Methods A total of 13336 Han women of childbearing age from Guangdong Women and Children Hospital for premarital examination and pregnancy examination during January 2016 and July 2018 were enrolled in our study.The genotypes of C677T and A1298C loci in MTHFR gene were determined by the TaqMan-MGB method.The distributions of genotype frequency and allele frequency between the local population and other populations were compared by the Chi-square test.Results The frequencies of wild type(CC),heterozygous mutant(CT)and homozygous mutant(TT)at C667T locus of MTHFR gene accounted for 51.5%,38.7%and 9.8%,respectively,and the frequency of mutant T gene was 29.2%.The frequencies of wild type(AA),heterozygous mutant(AC)and homozygous mutant(CC)at A1298C locus of MTHFR gene accounted for 59.3%,35.2%and 5.5%,respectively,and the frequency of mutant C gene was 23.1%.The genotype distribution and allele frequency distribution at C677T and A1298C loci of MTHFR gene in Han women of childbearing age in Guangdong province were significantly different from those in Chinese population(P<0.01).The genotype frequency and allele frequency at C677T and A1298C loci of MTHFR gene in Han women of childbearing age in Guangdong were significantly different from those of women of childbearing age in Jiangsu,Jiujiang,Qiqihaer and Changsha(P<0.05).The allele frequencies at C677T and A1298C loci of MTHFR gene in Han women of childbearing age in Guangdong province were different from those in Asian,East Asian,South Asian,European and American populations.Conclusion The polymorphism distribution of MTHFR gene in Guangdong province is different from other areas obviously.