长兴县汉族女性人群MTHFR和MTRR基因多态性频率分析

Analysis on frequencies of MTHFR and MTRR gene polymorphisms among Han women in Changxing County

目的探讨长兴县汉族女性5,10-亚甲基四氢叶酸还原酶(MTHFR)以及甲硫氨酸合成酶还原酶(MTRR)基因多态性频率特征,从而指导孕龄期妇女科学增补叶酸和预防出生缺陷的发生。方法选取2014年10月-2017年1月在长兴县中医院进行孕检的2 108名汉族女性为研究对象,采集口腔颊黏膜上皮细胞,从中提取基因组DNA,通过Taq Man-MGB荧光定量PCR法对MTHFR和MTRR的多态性位点进行分析,初步获得这两种基因在长兴县妇女的分布特征,并与已报道的其他地区的数据进行比较、分析。结果长兴县汉族女性的MTHFR C677T基因型和等位基因频率,与延边、新乡、尚志、廊坊、烟台、银川、镇江、松滋、湘潭、惠州、南宁和琼海等地区比较,差异具有统计学意义(P<0.05)。MTHFR A1298C基因型和等位基因频率,与延边、新乡、尚志、廊坊、烟台、湘潭、惠州、南宁和琼海等地区相比,差异有统计学意义(P<0.05)。MTRR A66G基因型和等位基因频率,与延边、琼海的差异有统计学意义(P<0.05)。结论长兴县汉族女性MTHFR和MTRR基因多态性频度分布具有明显的地域特异性。

Objective To explore the distribution characteristics of frequencies of methylenetetrahydrofolate reductase（ MTHFR） and methionine synthase reductase（ MTRR） gene polymorphisms among Han women in Changxing County,direct scientific supplementation of folic acid among the women of childbearing age,and prevent the occurrence of birth defects. Methods A total of 2 108 Han women receiving prenatal examination in Changxing County Hospital of Traditional Chinese Medicine from October 2014 to January 2017 were selected,buccal mucosa cells were collected,genomic DNA was abstracted. Taq Man-MGB fluorescent quantitative PCR was used to analyze polymorphic sites of MTHFR and MTRR. The distribution characteristics of MTHFR and MTRR gene polymorphisms among Han women in Changxing County were obtained preliminarily,then the results were compared with the data reported in other areas. Results There were statistically significant differences in the frequencies of MTHFR 677 TT genotypes and alleles between Han women in Changxing County and the women in Yanbian,Xinxiang,Shangzhi,Langfang,Yantai,Yinchuan,Zhenjiang,Songzi,Xiangtan,Huizhou,Nanning,and Qionghai（ P〈0. 05）. There were statistically significant differences in the frequencies of MTHFR A1298 C genotypes and alleles between Han women in Changxing County and the women in Yanbian,Xinxiang,Shangzhi,Langfang,Yantai,Xiangtan,Huizhou,Nanning,and Qionghai（ P〈0. 05）. There were statistically significant differences in the frequencies of MTRR A66 G genotypes and alleles between Han women in Changxing County and the women in Yanbian and Qionghai（ P〈0. 05）. Conclusion The distributions of MTHFR and MTRR gene polymorphisms among Han women in Changxing County have regional specificity.