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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。
Objective To investigate the relationship between c.66A> G polymorphism of methionine synthase reductase (MTRR) gene and c.677C> T of methylenetetrahydrofolate reductase (MTHFR) gene during the folic acid metabolism in Miao women in Liuzhou City. , C.1298A> C single nucleotide polymorphism distribution characteristics. Methods Totally 818 Hmong women in Liuzhou City were enrolled in this study. The oral mucosal epithelial cells were collected and genomic DNA was extracted. The genotypes of MTRR and MTHFR gene were genotyped by Taqman-MGB technique. The genotype frequency and allele frequency were statistically analyzed and compared with the reported data of different ethnic groups in other areas. Results The frequencies of CC, CT and TT genotypes of MTHFR c.677C> T polymorphism in Liuzhou Miao women were 72.49%, 25.43% and 2.08%, respectively. The frequencies of MTHFR c.1298A> C polymorphism sites AA, AC . The genotype frequency of CC was 53.18%, 39.36% and 7.46% respectively. The genotype frequencies of AA, AG and GG in MTRR c.66A> G polymorphic loci were 50.12%, 41.93% and 7.95%, respectively. The MTHFR 677TT of Miao women in Liuzhou was lower than that of Hainan Li, Hainan Han and Zhengzhou Han (P <0.05). The frequency of MTHFR1298CC was lower than Hainan’s Li nationality (χ2 = 22.366, P <0.05), higher than that of Han nationality in Zhengzhou (χ2 = 32.363, P <0.05). There was no significant difference between Hainan and Han nationality (χ2 = 0.291, P> 0.05). The genotype frequency of MTRR 66GG homozygous mutant was lower than that of Hainan Li nationality (χ2 = 9.150, P <0.05), but not significantly different from that of Hainan Han and Zhengzhou Han (P> 0.05). Conclusion Miao women in Liuzhou have different distribution characteristics of MTRR and MTHFR polymorphisms than other ethnic groups.