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目的调查巴东县土家族女性MTHFR、MTRR基因多态性分布特征。方法采用横断面调查研究方法,以巴东县人民医院做孕检的土家族女性139例为研究对象,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。统计分析该县女性MTHFR、MTRR基因多态性的分布特征,并与已报道地区进行比较,为进一步降低出生缺陷及孕产妇疾病提供分子医学依据。结果巴东县土家族女性MTHFR C677T基因型频率与柳州苗族、南宁壮族和三亚黎族女性比较,差异有统计学意义(P<0.01);MTHFR A1298C位点基因型频率与南宁壮族和三亚黎族女性比较,差异有统计学意义(P<0.01);MTRR A66G位点基因型频率与三亚黎族女性比较,差异有统计学意义(P<0.01);MTHFR C677T、A1298C和MTRR A66G基因型频率,与利川土家族、思南土家族、张家界土家族、延边朝鲜族、银川回族比较,差异无统计学意义(P>0.05);MTHFR C677T、1298C等位基因频率与张家界土家族、柳州苗族、三亚黎族、南宁壮族等女性比较,差异有统计学意义(P<0.05);MTRR A66G等位基因频率与张家界土家族、新疆维吾尔族和三亚黎族女性比较,差异有统计学意义(P<0.01)。结论巴东县土家族女性的MTHFR、MTRR基因频率分布有自身特点。
Objective To investigate the distribution of MTHFR and MTRR gene polymorphism in Tujia nationality in Badong county. Methods A total of 139 Tujia women undergoing pregnancy test in Badong County People’s Hospital were enrolled in this study. The oral mucosal epithelial cells were collected and genomic DNA was extracted. Taqman-MGB technique was used to detect the MTHFR and MTRR polymorphisms Sexual testing. Statistical analysis of the distribution characteristics of MTHFR and MTRR gene polymorphism in women in this county was compared with those in reported areas to provide a molecular basis for further reducing birth defects and maternal diseases. Results The frequency of MTHFR C677T genotype in Tujia nationality in Badong County was significantly higher than that in Liuzhou Miao nationality, Nanning Zhuang nationality and Sanya Li ethnicity women (P <0.01). The genotype frequency of MTHFR A1298C locus was significantly higher than that of Nanning Zhuang nationality and Sanya Li ethnic women , The difference was statistically significant (P <0.01). The genotype frequency of M66R A66G locus was significantly higher than that of Sanya women (P <0.01). The frequencies of MTHFR C677T, A1298C and MTRR A66G genotypes were similar to those of Lichuan There were no significant differences in the frequencies of MTHFR C677T and 1298C alleles between Tujia, Liuzhou Miao, Sanya Lijia, Nanning, Tujia, Zhangjiajie Tujia, Yanbian Korean and Yinchuan Hui people (P> 0.05) Zhuang and other women, the difference was statistically significant (P <0.05). The frequency of MTRR A66G allele was significantly different from that of Tujia, Zhangjiajie, Uygur and Sanya women in Zhangjiajie (P <0.01). Conclusion The frequencies of MTHFR and MTRR genes in Tujia nationality in Badong County have their own characteristics.