郑州市汉族女性MTHFR与MTRR基因多态性研究

Study on the polymorphisms of MTHFR gene and MTRR gene in the women of Han nationality in Zhengzhou city

目的探讨河南省郑州市汉族女性MTHFR、MTRR基因多态性的频率特征,以指导孕妇增补叶酸和出生缺陷一级预防。方法对河南郑州1 293例汉族女性进行叶酸代谢遗传情况调查,分析MTHFR C677T、A1298C和MTRR A66G的基因分型;统计分析基因多态性的频率特征,并与已报道的其他地区汉族女性的数据进行比较。结果郑州市汉族女性的MTHFR C677T、A1298C位点基因型和等位基因频率与乌鲁木齐、延边、廊坊、淄博、镇江、九江、眉山、惠州、湘潭、琼海等地的差异有统计学意义(P<0.05),MTRR A66G基因型和等位基因频率与九江和琼海汉族女性的差异有统计学意义(P<0.05)。结论郑州市汉族女性MTHFR和MTRR基因多态性频率分布具有地域特异性。

Objective To explore the frequency characteristics of methylenetetrahydrofolate reductase（ MTHFR） and methionine synthase（ MTRR） gene polymorphisms in the women of Han nationality in Zhengzhou city,guide supplementation of folic acid and primary prevention of birth defects. Methods The genetic status of folic acid metabolism in 1 293 women of Han nationality in Zhengzhou city were surveyed,MTHFR C677 T,A1298C and MTRR A66 G genotypes were analyzed; the frequency characteristics of MTHFR and MTRR gene polymorphisms were analyzed statistically; the results were compared with the reported data of the Han women in other areas. Results There were statistically significant differences in the frequencies of MTHFR C677 T and A1298 C genotypes and alleles between the Han women in Zhengzhou and the Han women in Urumchi, Yanbian, Langfang, Zibo, Zhenjiang, Jiujiang,Meishan,Huizhou,Xiangtan,and Qionghai（ P〈0. 05）. There were statistically significant differences in the frequencies of MTRR A66 G genotypes and alleles between the Han women in Zhengzhou and the Han women in Jiujiang and Qionghai（ P〈0. 05）. Conclusion The distributions of MTHFR and MTRR gene polymorphisms in Han women in Zhengzhou city have regional specificity.