【摘要】 目的探讨柳州市苗族女性叶酸代谢过程中甲硫氨酸合成酶还原酶(MTRR)基因c.66A>G多态性位点与亚甲基四氢叶酸还原酶(MTHFR)基因c.677C>T、c.1298A>C单核苷酸多态性的分布特征。方法采用横断面调查研究方法,以柳州市818例苗族女性为对象,采集口腔黏膜上皮细胞,提取基因组DNA,利用Taqman-MGB技术对MTRR与MTHFR基因多态性进行基因分型。统计分析其基因型频率和等位基因型频率,并与已报道的其它地区不同民族的数据进行比较。结果柳州市苗族女性MTHFR c.677C>T多态性位点CC、CT、TT的基因型频率分别为72.49%、25.43%和2.08%;MTHFR c.1298A>C多态性位点AA、AC、CC的基因型频率分别53.18%、39.36%和7.46%;MTRR c.66A>G多态性位点AA、AG、GG的基因型频率分别为50.12%、41.93%和7.95%。柳州市苗族女性的MTHFR 677TT低于海南黎族、海南汉族和郑州汉族(P值均<0.05)。MTHFR1298CC的频率低于海南黎族(χ2=22.366,P<0.05),高于郑州汉族(χ2=32.363,P<0.05),与海南汉族的差异没有统计学意义(χ2=0.291,P>0.05)。MTRR 66GG纯合突变基因型频率低于海南黎族(χ2=9.150,P<0.05),与海南汉族和郑州汉族的差异均没有统计学意义(P>0.05)。结论柳州市苗族女性具有不同于其他民族的MTRR与MTHFR基因多态性分布特征。更多还原

【Abstract】 Objective:To explore the gene polymorphisms distribution of methionine synthase reductase(MTRR)c.66A>G and methylenetetrahydrofolate reductase(MTHFR)c.677C>T,c.1298A>C among the Miao nationality in Liuzhou,Guangxi. Methods: A total of 818 oral epithelial cells samples from recruited Miao nationality women in Liuzhou were collected. The detections of MTRR and MTHFR gene polymorphisms conducted with Taqman-MGB technology. The distribution of gene polymorphisms of this study was analyzed and compared with partial nationalities of China,which included Hainan Li nationality,Hainan Han nationality and Zhengzhou Han nationality. Results: Among the Miao nationality women in Liuzhou,the frequencies of MTHFR 677 CC,CT,TT genotypes were 72.49%,25.43% and 2.08%,respectively;the frequencies of MTHFR 1298 AA,AC,CC genotypes were 53.18%,39.36% and 7.46%,respectively;and the frequencies of MTRR 66 AA,AG,GG genotypes were 50.12%,41.93% and 7.95%,respectively. Compared with partial other nationalities,the study found that the frequency of MTHFR 677 TT was lower than that in Hainan Li nationality,Hainan and Zhengzhou Han nationality(all P<0.05). The frequency of MTHFR 1298 CC genotype of Miao nationality women in Liuzhou lower than that in Hainan Li nationality(χ2=22.366,P<0.05),and higher than that in Zhengzhou Han nationality(χ2=32.363,P<0.05),while no difference was found when compared with Hainan Han nationality(χ2=0.291,P>0.05). The frequency of MTRR 66 GG genotype of Miao nationality women in Liuzhou lower than that in Hainan Li nationality(χ2=9.150,P<0.05),while no difference was found when compared with Hainan and Zhengzhou Han nationality(all P>0.05). Conclusions:The gene polymorphism distributions of MTRR c.66A>G and MTHFR c.677C>T,c.1298A>C among the Miao nationality women in Liuzhou were found to be statistically different from partial other nationalities of China.更多还原