河北省汉族女性亚甲基四氢叶酸还原酶与甲硫氨酸合成酶还原酶基因多态性

Geographical distribution of MTHFR and MTRR gene polymorphisms among Han women in Hebei province

目的 探讨河北省汉族女性亚甲基四氢叶酸还原酶（MTHFR）和甲硫氨酸合成酶还原酶（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 选取河北省廊坊、张家口、承德三个地区的5 562名汉族女性,检测MTHFR C677T、A1298C和MTRR A66G基因多态性,分析频率分布特征,与已报道的其他地区数据进行比较. 结果 河北省汉族女性的MTHFR 677TT纯合突变基因型频率（34.9％）高于烟台（32.2％）、延边（28.3％）、镇江（21.8％）、松滋（15.4％）、德阳（13.8％）、广州（7.4％）、琼海（6.1％）,低于淄博（43.6％）、潍坊（38.8％）,河北省内3个地区比较,差异无统计学意义.MTHFR 1298CC纯合突变基因型频率（2.0％）高于淄博（1.4％）和潍坊（1.3％）,低于延边（3.8％）、镇江（3.5％）、松滋（2.6％）、德阳（6.3％）、广州（5.3％）、琼海（7.1％）,等位基因频率与淄博、镇江、松滋、德阳、广州和琼海等比较,差异有统计学意义;MTRR66GG纯合突变基因型频率（6.4％）低于德阳（8.2％）、广州（7.7％）和琼海（9.3％）,等位基因频率与淄博、潍坊、松滋、德阳、广州和琼海汉族女性的差异有统计学意义. 结论 河北省汉族女性MTHFR和MTRR基因多态性频率分布具有地域特异性。

Objective To describe the genotype distribution of MTHFR and MTRR among Chinese Han women in Hebei province. Methods 5 562 DNA samples were collected from women in Langfang, Zhangjiakou and Chengde city, Hebei province. The distribution of MTHFR C677T, A1298C, and MTRR A66G genotypes was tabulated and compared with the results reported in Chinese in other regions. Results The frequency of MTHFR 677TF genotype was no statistical differences among the three cities in Hebei province. However, the overall TI＂ genotype in Hebei was higher than that in Yantai, Yanbian, Zhenjiang, Songzi, Deyang, Guangzhou, and Qionghai, but lower than that in Zibo and Weifang. The frequency of MTHFR 1298CC genotype in Hebei was higher than that in Zibo and Weifang, but lower than that in Yanbian, Zbenjiang, Songzi, Deyang, Guangzhou, and Qionghai. The frequency of MTRR 66GG genotype in Hebei was lower than that in Deyang, Guangzhou, and Qionghai. Conclusion The polymorphisms of MTHFR C677T, A1298C, and MTRR A66G among Han women in Hebei province were different from other regions of China.