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目的探讨银川市回族和汉族女性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单核苷酸多态性的分布特征。方法选取2013年6月-2014年11月在该院进行孕前与孕期检查无亲缘关系的汉族和回族女性611例为研究对象,收集其口腔黏膜上皮细胞,提取基因组DNA,通过荧光定量PCR方法进行MTHFR和MTRR基因多态性检测。分析该地区回族和汉族女性基因多态性分布特征的差异。结果银川市回族女性MTHFR C677T位点CC、CT、TT基因型的频率分别是33.5%、50.0%、16.5%,与汉族女性基因多态性分布的差异有统计学意义(P<0.05),其中TT基因型的分布频率显著低于汉族女性;MTHFR A1298C位点AA、AC、CC基因型的频率分别为62.8%、34.3%、2.9%,与汉族女性基因多态性分布的差异无统计学意义(P>0.05);MTRR A66G位点AA、AG、GG基因型的频率分别为43.8%、47.9%、8.3%,与汉族女性基因多态性分布的差异有统计学意义(P<0.05)。结论银川市回族和汉族女性MTHFR和MTRR基因多态性分布情况不同,具有民族特异性。
Objective To investigate the distribution of methylenetetrahydrofolate reductase (MTHFR) C677T, A1298C and methionine synthase reductase (MTRR) A66G polymorphism in Hui and Han Chinese women in Yinchuan. Methods From June 2013 to November 2014, 611 Han and Hui women unrelated to prenatal examination before pregnancy in this hospital were selected as the research object. Oral mucosal epithelial cells were collected and genomic DNA was extracted. Fluorescent quantitative PCR was performed Detection of MTHFR and MTRR Gene Polymorphisms. Analysis of the Hui and Han nationality in the region of the genetic polymorphism of the distribution characteristics of differences. Results The frequencies of CC, CT and TT genotypes of MTHFR C677T locus in Hui women in Yinchuan were 33.5%, 50.0% and 16.5%, respectively, which were significantly different from those in Han women (P <0.05) TT genotype frequencies were significantly lower than those in Han women. The frequencies of AA, AC and CC genotypes in MTHFR A1298C sites were 62.8%, 34.3% and 2.9%, respectively, which were not significantly different from the Han female genotypes (P> 0.05). The frequencies of AA, AG and GG genotypes in MTRR A66G loci were 43.8%, 47.9% and 8.3%, respectively, which were significantly different from those in Han women (P <0.05). Conclusion The distribution of MTHFR and MTRR polymorphisms in Hui and Han nationality women in Yinchuan is different and ethnic specific.