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目的对黑龙江省尚志市汉族女性MTHFR、MTRR基因多态性进行研究。方法以尚志市455例汉族女性为研究对象,检测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。结果尚志市汉族女性的MTHFR C677T基因型和等位基因频率,与潍坊、镇江、松滋、德阳、惠州、琼海等地差异有统计学意义(P<0.05)。MTHFR A1298C基因型和等位基因频率,与松滋、德阳、惠州、琼海等地差异有统计学意义(P<0.05)。MTRR A66G基因型和等位基因频率,与琼海差异有统计学意义(P<0.05)。结论尚志市汉族女性MTHFR和MTRR基因多态性频率分布具有地域特异性。
Objective To study the polymorphisms of MTHFR and MTRR in Han women in Shangzhi, Heilongjiang Province. Methods A total of 455 Chinese Han women in Shangzhi City were investigated for genotyping of MTHFR C677T, A1298C and MTRR A66G. The frequency characteristics of the genetic polymorphisms were statistically analyzed and compared with the reported data of Han women in other areas. Results The frequencies of MTHFR C677T genotypes and alleles in Han women in Shangzhi were statistically different from those in Weifang, Zhenjiang, Songzi, Deyang, Huizhou and Qionghai (P <0.05). MTHFR A1298C genotype and allele frequencies were significantly different from those of Songzi, Deyang, Huizhou and Qionghai (P <0.05). MTRR A66G genotype and allele frequency, and Qionghai difference was statistically significant (P <0.05). Conclusion The frequencies of MTHFR and MTRR gene polymorphisms in Shangzhi Han women are regionally specific.