淄博市汉族女性亚甲基四氢叶酸还原酶和甲硫氨酸合成酶还原酶基因多态性分布研究  

Study on the methylenetetrahydrofolate reductase and methionine synthase reductase polymorphism among the Han women in Zibo City

作　　者：从玉英 鲁衍强 芮欣忆 曹修亮[1] 王茜云[1] 

机构地区：[1]淄博市妇幼保健院,淄博255029 [2]上海靶向分子医学研究所,上海200433

出　　处：《现代妇产科进展》2012年第10期779-781,共3页Progress in Obstetrics and Gynecology

摘　　要：目的:分析淄博市汉族女性亚甲基四氢叶酸还原酶(MTHFR)C677T、A1298C及甲硫氨酸合成酶还原酶(MTRR)A66G基因多态性的分布特征。方法:采用横断面调查研究方法,以淄博市1041例汉族女性为研究对象,采集口腔黏膜上皮细胞,提取基因组DNA,采用Taqman-MGB技术检测MTHFR和MTRR基因多态性。统计分析基因多态性的分布特征,并与已报道的其他地区数据进行比较。结果:淄博市汉族女性的MTHFR 677TT纯合突变基因型频率为43.6%,显著高于郑州、德阳、海南地区(P<0.01);MTHFR 1298CC纯合突变基因型频率为1.4%,显著低于德阳和海南地区(P<0.01)。MTRR 66GG纯合突变基因型频率为4.8%,显著低于海南地区(P<0.01)。结论:淄博市汉族女性有不同于其他地区的MTHFR和MTRR基因多态性分布特征。Objective：To explore the distribution of gene polymorphisms of methylenetetrahydrofolate reductase（MTHFR） C677T,A1298C and methionine synthase reductase（MTRR） A66G amomg the Han female in Zibo city.Methods：A cross-sectional study was used.A total of 1041 oral epithelial cells samples from recruited Han women in Zibo were collected.The detections of MTHFR and MTRR gene polymorphisms were conducted with Taqman-MGB technology.The distribution of gene polymorphisms was analyzed and compared with partial regions of China,which were Weifang,Zhengzhou,Deyang City and Hainan Province.Results：The frequencies of MTHFR 677CC,CT and TT genotypes among the Han women in Zibo were 12.5%,43.9% and 43.6%.The frequencies of MTHFR 1298AA,AC and CC genotypes were 79.0%,19.6% and 1.4%.The frequencies of MTRR 66AA,AG and GG genotypes were 58.6%,36.6% and 4.8%.Compared with partial regions,the study found that the frequency of MTHFR 677TT genotype in Zibo Han women was higher than that in Zhengzhou,Deyang and Hainan（P0.01）,the frequency of MTHFR 1298CC genotype in Zibo Han women was lower than that in Deyang and Hainan（P0.01）,and the frequency of MTRR 66GG genotype in Zibo Han women was lower than that in Hainan（P0.01）.Conclusions：The gene polymorphisms distribution of MTHFR C677T,A1298C and MTRR A66G among the Han women in Zibo is found to be statistically different from partial regions of China.

关 键 词：亚甲基四氢叶酸还原酶 甲硫氨酸合成酶还原酶 单核苷酸多态性 汉族 妇女 遗传学 群体 口腔粘膜 基因型 出生缺陷 

分 类 号：R394[医药卫生—医学遗传学] Q347[医药卫生—基础医学]