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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 investigate the frequency characteristics of MTHFR and MTRR gene polymorphisms in Han women in Zhengzhou, Henan Province to guide the primary prevention of folic acid supplementation and birth defects in pregnant women. Methods A total of 1 293 Han women from Zhengzhou in Henan Province were investigated for the genetic variation of folic acid. The genotypes of MTHFR C677T, A1298C and MTRR A66G were analyzed. The frequency characteristics of the genetic polymorphisms were analyzed statistically. The results were compared with the reported data of Han women in other areas Compare. Results The genotypes and allele frequencies of MTHFR C677T and A1298C loci in Zhengzhou Han women were significantly different from those in Urumqi, Yanbian, Langfang, Zibo, Zhenjiang, Jiujiang, Meishan, Huizhou, Xiangtan and Qionghai (P <0.05). The frequencies of MTRR A66G genotypes and alleles were significantly different from those of Han and Han women in Jiujiang and Qionghai (P <0.05). Conclusion The frequencies of MTHFR and MTRR gene polymorphisms in Han women in Zhengzhou are regionally specific.