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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 analyze the distribution of methylenetetrahydrofolate reductase (MTHFR) C677T, A1298C and methionine synthase reductase (MTRR) A66G polymorphism in Han nationality in Zibo City. Methods: A total of 1041 Han women from Zibo City were enrolled in this study. Oral mucosal epithelial cells were collected and genomic DNA was extracted. MTHFR and MTRR gene polymorphisms were detected by Taqman-MGB technique. Statistical analysis of gene polymorphism distribution characteristics, and with other reported data were compared. Results: The genotype frequency of MTHFR 677TT homozygous mutation was 43.6% in Han nationality in Zibo city, which was significantly higher than that in Zhengzhou, Deyang and Hainan (P <0.01). The genotype frequency of MTHFR 1298CC homozygous mutation was 1.4% And Hainan (P <0.01). The frequency of homozygous MTRR 66GG genotype was 4.8%, which was significantly lower than that in Hainan (P <0.01). Conclusion: Han women in Zibo City have different distribution characteristics of MTHFR and MTRR gene polymorphisms in other regions.