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目的调查乌鲁木齐市汉族人群叶酸代谢障碍关键酶基因5,10-亚甲基四氢叶酸还原酶(MTHFR)C677T、A1298C及甲硫氨酸还原酶(MTRR)A66G位点基因多态性分布情况。方法随机以乌鲁木齐市216位汉族女性、206位汉族男性为研究对象,检测MTHFR C677T、A1298C及MTRR A66G基因位点多态性,采用统计学方法分析性别、地域与基因多态性分布特征的关系。结果乌鲁木齐的汉族女性MTHFR 677TT纯合突变基因型频率为24.1%,显著高于南方城市湘潭、眉山、南宁、琼海和惠州(P<0.05);MTHFR A1298C基因型分布情况与尚志、延边、廊坊、烟台地区的人群差异有统计学意义(P<0.05);MTRR A66G位点的基因型频率和等位基因频率与延边、廊坊、济源和镇江等地区比较差异有统计学意义(P<0.05)。结论乌鲁木齐市汉族女性与男性MTHFR、MTRR基因多态性分布无差异,该地区汉族女性的基因多态性频度分布具有地区特异性。
Objective To investigate the distribution of polymorphisms of A66G, the key enzyme gene of folic acid metabolism, 5,10-methylenetetrahydrofolate reductase (MTHFR) C677T, A1298C and methionine reductase (MTRR) in Han nationality in Urumqi. Methods A total of 216 Han Chinese and 206 Han Chinese men in Urumqi were randomly divided into two groups. The polymorphisms of MTHFR C677T, A1298C and MTRR A66G were detected. The distribution of sex, region and gene polymorphism was analyzed by using statistical methods . Results The genotype frequency of MTHFR 677TT homozygous mutation in Han nationality in Urumqi was 24.1%, which was significantly higher than that in southern cities of Xiangtan, Meishan, Nanning, Qionghai and Huizhou (P <0.05). The distribution of MTHFR A1298C genotype was similar to that of Shangzhi, Yanbian and Langfang (P <0.05). The genotype frequency and allele frequency of ATRG A66G in MTRR were significantly different from those in Yanbian, Langfang, Jiyuan and Zhenjiang (P <0.05) . Conclusion There is no difference in the distribution of MTHFR and MTRR among Han nationality in Urumqi. The frequency distribution of Han nationality Han women is regionally specific.