【摘要】 目的调查大理白族自治州汉族和白族女性5,10-亚甲基四氢叶酸还原酶(MTHFR)、甲硫氨酸合成酶还原酶(MTRR)基因多态性分布特征。方法采用横断面调查研究方法,以到大理白族自治州妇幼保健院做孕检的女性为研究对象,其中汉族120例,白族557例。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。统计分析该地区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理论依据。结果大理白族自治州汉族、白族女性MTHFR C677T,A1298C和MTRR A66G基因型分布及等位基因频率分布,差异无统计学意义(P>0.05);大理白族自治州白族女性MTHFR C677T基因型和等位基因频率分布与利川土家族(等位基因除外)、延边朝鲜族、三亚黎族、南宁壮族、银川回族和柳州苗族女性比较,差异有统计学意义(P<0.05),MTHFR A1298C基因型和等位基因频率分布与三亚黎族、南宁壮族和柳州苗族女性比较,差异有统计学意义(P<0.05);MTRR A66G的基因型与等位基因频率分布与三亚黎族、新疆维吾尔族和南宁壮族女性比较,差异有统计学意义(P<0.05)。结论大理汉族、白族女性的MTHFR、MTRR基因频率分布有自身特点。更多还原

【Abstract】 Objective To survey the distribution characteristics of 5,10-methylenetetrahydrofolate reductase( MTHFR) and 5-methyltetrahydrofolate-homocysteine methyltransferase reductase( MTRR) gene polymorphisms among Han and Bai women in Dali Bai Autonomous Prefecture. Methods A total of 120 Han women and 557 Bai women were selected by a cross-sectional study. Oral epithelial cells were collected to extract genome DNA,Taqman-MGB technology was used to detect gene polymorphisms of MTHFR and MTRR. The distribution characteristics of MTHFR and MTRR gene polymorphisms in the region were analyzed statistically,then the results were compared with those in other cities in China to provide molecular medical basis for further reducing birth defects and maternal diseases. Results There was no statistically significant difference in the frequencies of MTHFR C677 T,A1298C and MTRR A66 G genotypes and alleles between Han women and Bai women in Dali Bai Autonomous Prefecture( P > 0. 05); there were statistically significant differences in the frequencies of MTHFR C677 T genotypes and alleles between Bai women in Dali Bai Autonomous Prefecture and Tujia women in Lichuan( except alleles),Korean women in Yanbian,Li women in Sanya,Zhuang women in Nanning,Hui women in Yinchuan,Miao women in Liuzhou( P<0. 05);there were statistically significant differences in the frequencies of MTHFR A1298 C genotypes and alleles between Bai women in Dali Bai Autonomous Prefecture and Li women in Sanya,Zhuang women in Nanning,Miao women in Liuzhou( P<0. 05); there were statistically significant differences in the frequencies of MTRR A66 G genotypes and alleles between Bai women in Dali Bai Autonomous Prefecture and Li women in Sanya,Uyghur women in Xinjiang,Zhuang women in Nanning( P < 0. 05). Conclusion The distributions of MTHFR and MTRR gene polymorphisms among Han and Bai women in Dali Bai Autonomous Prefecture have self-characteristics.更多还原