银川市回族和汉族女性MTHFR和MTRR基因单核苷酸多态性分析

Analysis on single nucleotide polymorphisms of MTHFR and MTRR genes among Hui and Han women in Yinchuan city

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 explore the distribution characteristics of methylenetetrahydrofolate reductase （MTHFR） C677T, A1298C and methionine synthase reductase （MTRR） A66G single nucleotide polymorphisms among Hui and Hart women in Yinchuan city. Methods A total of 611 Hui and Han women receiving progestational and prenatal examination in the hospital from June 2013 to November 2014 were selected, all the women had no genetic relationship. Their oral epithelial cells were collected to abstract genome DNA, fluores- cence quantitative PCR was used to detect polymorphisms of MTHFR and MTRR genes. The differences of distribution characteristics of MTHFR and MTRR genes polymorphisms among Hui and Hart women in Yinchuan city were analyzed. Results The frequencies of MTHFR 677T locus CC, CT and TT genotypes among Hui women in Yinchuan city were 33.5%, 50. 0%, and 16. 5%, respectively, compared with Han women, there were statistically significant differences （ P〈0. 05 ） , the distribution frequency of TT genotype among Hui women was sig- nificantly lower than that among Han women. The frequencies of MTHFR A1298C locus AA, AC, and CC genotypes among Hui women in Yinchuan city were 62. 8%, 34. 3%, and 2. 9%, respectively, compared with Han women, there was no statistically significant difference （ P〉0. 05）. The frequencies of MTRR A66G locus AA, AG, and GG genotypes among Hui women in Yinchuan city were 43.8% , 47.9%, and 8.3 %, respectively, compared with Han women, there were statistically significant differences （P〈0.05）. Conclusion The distribu- tions of MTHFR and MTRR genes polymorphisms among Hui and Hart women in Yinchuan city are different, which has ethnic specificity.