潍坊市汉族女性叶酸代谢关键酶基因多态性分布研究

Polymorphisms of key enzyme genes for folic acid metabolism in Han women in Weifang

中文关键词: 基因多态性  亚甲基四氢叶酸还原酶  甲硫氨酸合成酶还原酶

英文关键词: Gene polymorphism  Methylenetetrahydrofolate reductase  Methionine synthase reductase

中文摘要:

      目的：针对潍坊市汉族女性开展分子流行病学调查，研究叶酸代谢关键酶MTHFR和MTRR的基因多态性分布。方法：以孕期保健的670例汉族健康女性为研究对象，采集口腔黏膜上皮脱落细胞，抽提基因组DNA，使用荧光定量PCR方法检测MTHFR C677T、A1298C和MTRR A66G基因多态性，进行统计分析。结果：1）入组对象的基因多态性分布符合遗传平衡。2）汉族女性MTHFR 677CC、CT、TT的基因型频率分别为13.73%、47.91%、38.36%，C、T等位基因频率分别为37.7%、62.3%；MTHFR 1298AA、AC、CC的基因型频率分别为75.52%、23.28%、1.19%，A、C等位基因频率分别为87.2%、12.8%；MTRR 66AA、AG、GG的基因型频率分别为54.63%、40.44%、4.93%，A、G等位基因频率分别为74.9%、25.1%。3）汉族女性MTHFR C677T和A1298C两位点连锁有7种组合，频率最高的是TT/AA（38.21%），没有CT/CC和TT/CC组合。两位点间存在完全连锁不平衡（D^'=0.987，r²=0.237）。结论：获取潍坊市汉族女性MTHFR和MTRR基因多态性的群体遗传学特征。

英文摘要:

      Objective: To conduct a molecular epidemiological survey of Han women in Weifang and study the genetic polymorphisms of the key enzymes folate metabolism, MTHFR and MTRR. Methods: A total of 670 healthy women of Han nationality during pregnancy were taken as research objects. Exfoliated cells of oral mucosa were collected, genomic DNA was extracted, and MTHFR C677T, A1298C, and MTRR A66G gene polymorphisms were detected by fluorescent quantitative PCR for statistical analysis. Results: 1) The genetic polymorphism distribution of the subjects was in line with genetic balance. 2) The genotype frequencies of MTHFR 677CC, CT, and TT of Han women were 13.73%,47.91%,38.36%, and the C and T allele frequencies were 37.7% and 62.3%, respectively. The genotypes frequencies of MTHFR 1298AA, AC, and CC were 75.52%,23.28%,1.19%, respectively. The frequencies of the A and C alleles were 87.2% and 12.8%. The genotype frequencies of MTRR 66AA, AG, and GG were 54.63%,40.44%,4.93%. The G allele frequencies were 74.9% and 25.1%, respectively. 3) There are 7 combinations of two-point linkage between MTHFR C677T and A1298C for Han women. The highest frequency is TT/AA (38.21%). There is no CT/CC and TT/CC combination. There is a complete linkage disequilibrium between the two points (D^'=0.987，r²=0.237). Conclusion: The population genetics of MTHFR and MTRR gene polymorphisms in Han women of Weifang City were obtained.