湖北松滋市汉族女性 MTHFR 和 MTRR 基因多态性分布

目的分析湖北省松滋地区女性亚甲基四氢叶酸还原酶（methylenetetrahydrofolatereductase，MTHFR）C677T、A1298C及甲硫氨酸合成酶还原酶（methioninesynthasereductase，MTRR）A66G基因多态性的分布特征。方法采用现况研究方法，以松滋市1077例女性为研究对象，提取其口腔黏膜上皮细胞的基因组DNA，通过荧光定量PCR方法检测MTHFR和MTRR基因多态性。统计分析本地区基因多态性的分布特征，并与已报道其他地区进行比较。结果松滋市女性的MTHFR677TT纯合突变基因型频率为15．41％，与四川省德阳市（13．80％）基本一致，差异无统计学意义（P〉0．05）；高于广东省惠州市（10．86％）、海南省琼海市（6．14％），低于江苏省镇江市（21．84％）、河南省郑州市（34．5％）、山东省临沂市（35．03％），均有极显著性差异（P〈0．01）。MTHFR1298CC纯合突变基因型的分布百分数为2．60％，与四川省德阳市（6．26％）基本一致，差异均无统计学意义（P〉0．05）；低于海南省琼海市（7．13％）、广东省惠州市（7．24％），高于山东省临沂市（2．42％），差异均有统计学意义（P〈0．01）。MTRR66GG纯合突变基因型频率为6．41％，与琼海市比较，差异有统计学意义（P〈0．01）。结论松滋市女性MTHFR和MTRR基因多态性分布具有地域特异性。

Geographical distribution of MTHFR C677T,A1298C and MTRR A66G Gene Polymorphisms among the Han gestational age women in Songzi city

Objective To explore the genotype distribution of methylenetetmhydrofolate reductase （MTHFR）C677T, A1 298C and methionine synthase reductase （MTRR） A66G involved in the folic acid biosynthetic pathway among Chinese Hart gestational-age women in Songzi City. Methods 1 077 samples were recruited from Songzi region in Hubei Province. Buecal samples were collected and genomic DNA was isolated. The detections of MTHFR and MTRR gene polymorphisms were conducted with Taqman-MGB technology. The distribution of gene polymorphisms of this study was analyzed and compared with some reported regions of China. Results Among the Han women in Songzi , the frequency of MTHFR 677rF1＇ genotype was 15.41%, it was higher than that in Qionghai and Huizhou（all P〈0. 01 ）, and lower than that in Zhenjiang, Zhengzhou and Linyi（all P〈0. 01） ; The frequency of MTHFR 1 298CC genotype was 2. 60%, it was higher than that in Linyi, and lower than that in Qionghai and Huizhou （ all P values were〈0. 01 ） ; The frequency of MTRR 66GG genotype was 6. 41%,it is significantly different from Qionghai（P〈0. 01 ）. Conclusions This study suggests that the gene polymorphism of MTHFR C677T, A1298C and MTRR A66G among the Han women in Songzi was statistically different from some other regions of China.