惠州汉族女性亚甲基四氢叶酸还原酶和甲硫氨酸合成还原酶的基因多态性分布

发布时间：2018-02-12 21:27

本文关键词： 亚甲基四氢叶酸还原酶甲硫氨酸合成还原酶基因多态性　出处：《中山大学学报(医学科学版)》2013年01期 　论文类型：期刊论文

【摘要】：【目的】研究广东省惠州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 ,以惠州市359例汉族女性为对象,采集口腔黏膜上皮细胞,提取基因组DNA,采用Taqman-MGB技术,进行MTHFR和MTRR基因多态性检测。统计分析基因多态性的分布特征,并与已报道的其他地区的数据进行比较。【结果】惠州市汉族女性的MTHFR 677TT纯合突变基因型频率为10.9%,高于四川德阳的8.6%,低于山东潍坊的41.8%和河南郑州的34.5%(P0.05);MTHFR 1298CC纯合突变基因型频率为7.2%,高于潍坊的1.2%和郑州的2.7%(P0.05);MTRR 66GG纯合突变基因型频率为5.6%,低于海南地区的9.1%(P0.05)。【结论】惠州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。
[Abstract]:[objective] to study the distribution characteristics of methylenetetrahydrofolate reductase (MTHFRN) C677TnA1298C and methionine reductase (MTRRRtA66G) gene polymorphisms in female Han women in Huizhou, Guangdong Province. [methods] Cross-sectional investigation was used. The oral mucosal epithelial cells were collected from 359 Han women in Huizhou, and genomic DNA was extracted. MTHFR and MTRR gene polymorphisms were detected by Taqman-MGB technique. [results] the homozygous genotype frequency of MTHFR 677TT in Han women in Huizhou was 10.9, higher than that in Deyang, Sichuan Province, and was lower than that in Weifang, Shandong Province, and in Zhengzhou, Henan Province. [results] the homozygous mutation of MTHFR 677TT was lower than that of 41.8% in Weifang, Shandong Province, and 34.5% in Zhengzhou, Henan Province. The genotype frequency was 7.2, higher than that in Weifang (1.2%) and Zhengzhou (2.7g). The homozygous mutation frequency of MTR66GG was 5.6, lower than that of 9.1GG in Hainan. [conclusion] the distribution of MTHFR and MTRR polymorphisms in Han women in Huizhou is different from that in other areas.
【作者单位】：惠州市第二妇幼保健院;上海靶向分子医学研究所;
【基金】：国家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-0051)
【分类号】：R394

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