摘要
目的分析贵阳市汉族女性5,10-亚甲基四氢叶酸还原酶(MTHFR) C677T、A1298C及甲硫氨酸合成酶还原酶(MTRR) A66G基因多态性的分布特征,为进一步群体遗传分析奠定基础。方法采用横断面调查研究方法,以贵阳市219例汉族女性为研究对象。采集口腔黏膜上皮细胞,提取基因组DNA,采用Taqman-MGB技术,进行MTHFR和MTRR基因多态性检测。统计分析本地区基因多态性的分布特征,并与已报道地区进行比较。结果贵阳市汉族女性MTHFR C677T的基因型和等位基因频率与已有相关数据报道的银川、莱芜、济源、惠州、南宁和琼海汉族女性比较,差异有统计学意义(均P<0.01)。MTHFR A1298C的基因型和等位基因频率与莱芜、南宁和琼海汉族女性比较,差异有统计学意义(均P<0.01)。MTRR A66G基因型和等位基因频率与琼海汉族女性比较,差异有统计学意义(均P<0.01); MTRR A66G等位基因频率与南宁汉族女性比较,差异有统计学意义(P<0.05)。MTHFR C677T,A1298C和MTRR A66G基因型和等位基因频率,与昆明汉族女性比较,差异无统计学意义(均P>0.05)。结论贵阳市汉族女性的MTHFR、MTRR基因频率分布有自身特点。
Objective To analyze the distribution characteristics of gene polymorphisms of 5,10-methylenetetrahydrofolate reductase(MTHFR) C677T,A1298C and methionine synthase reductase(MTRR) A66G among Han women in Guiyang,lay the foundation of further genetic analysis of population.Methods A total of 219 Han women were enrolled in this study,then a cross-sectional study was performed.Oral mucosal epithelial cells were collected to abstract genomic DNA.Taqman-MGB technique was used to detect gene polymorphisms of MTHFR and MTRR.The distribution characteristics of gene polymorphisms of MTHFR and MTRR in the region were statistically analyzed,and the results were compared with those reported in other areas.Results There were statistically significant differences in the frequencies of MTHFR C677T genotypes and alleles between Han women in Guiyang and Han women in Yinchuan,Laiwu,Jiyuan,Huizhou,Nanning,and Qionghai(P<0.01).There were statistically significant differences in the frequencies of MTHFR A1298C genotypes and alleles between Han women in Guiyang and Han women in Laiwu,Nanning,and Qionghai(P < 0.01).There were statistically significant differences in the frequencies of MTRR A66G genotypes and alleles between Han women in Guiyang and Han women in Qionghai(P<0.01).There was no statistically significant difference in the frequencies of MTHFR C677T,A1298C and MTRR A66G genotypes and alleles between Han women in Guiyang and Han women in Kunming(P>0.05).Conclusion The distributions of gene polymorphisms of MTHFR and MTRR among Han women in Guiyang have regional features.
引文
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