茂县羌族、汉族、藏 族女性MTHFR与MTRR基因多态性分布研究  

Study on the Polymorphism of MTHFR and MTRR Genes in Yi,Han and Tibetan Women in Mao County

作　　者：田小红 李秋菊 陈敏 何晴 苏帮琼 唐志敏 陈大红 胡季芳 鲁衍强 TIAN Xiaohong;LI Qiuju;CHEN Min;HE Qing;SU Bangqiong;TANG Zhimin;CHEN Dahong;HU Jifang;LU Yanqiang(Mao County Maternal and Child Health Family Planning Service Center,Maoxian,Sichuan 623200,China;Shanghai Zhangjiang Puhui Institute of Translational Medicine,Shanghai 201314,China)

机构地区：[1]茂县妇幼保健计划生育服务中心,四川茂县623200 [2]上海张江普汇转化医学研究院,201314

出　　处：《重庆医学》2019年第S02期1-4,共4页Chongqing medicine

基　　金：中国疾病预防控制中心妇幼保健中心妇幼保健分子遗传医学研究专项计划(FY-ZX-ZD-381)。

摘　　要：目的针对四川省阿坝藏族羌族自治州茂县的女性开展分子流行病学调查,研究羌族、汉族、藏族人群叶酸代谢关键酶--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861例育龄女性作为研究对象,其中羌族721例,汉族98例,藏族42例。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,并进行统计分析。结果(1)861例育龄女性基因多态性分布符合遗传平衡。(2)羌族女性MTHFR 677CC、CT、TT的基因型频率分别为34.1%、50.5%、15.4%,汉族女性为34.7%、48.0%、17.3%,藏族女性为45.2%、42.9%、11.9%。羌族女性MTHFR 1298AA、AC、CC的基因型频率分别为71.3%、25.4%、3.3%,汉族女性为63.3%、33.7%、3.1%,藏族女性为54.8%、42.9%、2.4%。羌族女性MTRR 66AA、AG、GG的基因型频率分别为48.0%、41.9%、10.1%,汉族女性为57.1%、33.7%、9.2%,藏族女性为50.0%、42.9%、7.1%。基因型和等位基因频率分布比较,差异均无统计学意义(P>0.05)。(3)MTHFR C677T和A1298C两位点连锁及单倍型分析表明两位点间存在高度连锁不平衡。结论获取茂县羌族、汉族、藏族女性MTHFR和MTRR基因多态性的群体遗传学特征。Objective To investigate the molecular polymorphism of MTHFR and MTRR,the key enzymes of folate metabolism in Yi,Han and Tibetan populations,in a molecular epidemiological survey of women in Mao County,Aba Tibetan and Qiang Autonomous Prefecture,Sichuan Province.Methods A total of861 women of childbearing age during pregnancy were studied,including 721 Yi people,98 Han people and 42 Tibetans.The oral mucosal epithelial exfoliated cells were collected,genomic DNA was extracted,and the polymorphisms of MTHFR C677T,A1298C and MTRR A66G genes were detected by real-time quantitative 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 in Yi women were 34.1%,50.5%,and 15.4%,respectively,34.7%,48.0%and 17.3%for Han women and 45.2%,42.9%,and 11.9%for Tibetan women.The genotype frequencies of MTHFR 1298AA,AC,and CC in Yi women were 71.3%,25.4%and 3.3%,respectively,which were 63.3%,33.7%and 3.1%for Han women and 54.8%,42.9%and 2.4%for Tibetan women.The genotype frequencies of MTRR 66AA,AG and GG were 48.0%,41.9%,and 10.1%,and 57.1%,33.7%,and 9.2%for Han women,and 50.0%,42.9%,and 7.1%for Tibetan women.There was no significant difference in genotype and allele frequency distribution(P>0.05).(3)Two-point linkage and haplotype analysis of MTHFR C677T and A1298C showed a high degree of linkage disequilibrium between the two points.Conclusion The population genetic characteristics of MTHFR and MTRR gene polymorphisms in Yi,Han and Tibetan women in Mao County were obtained.

关 键 词：基因多态性 亚甲基四氢叶酸还原酶 甲硫氨酸合成酶还原酶 

分 类 号：R73[医药卫生—肿瘤]