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目的研究雅安市汉族女性中5,10-亚甲基四氢叶酸还原酶(MTHFR)及甲硫氨酸合成酶还原酶(MTRR)基因的单核苷酸多态性(single nucleotide polymorphisms,SNPs)分布特征。方法通过横断面调查研究方法,选取2014年5月-2015年11月在四川省雅安市妇幼保健院检查及孕期产检的汉族育龄期女性694例为研究对象,采用荧光定量PCR技术,检测其叶酸代谢过程中编码关键酶的基因MTHFR C677T、A1298C和MTRR A66G的位点多态性,分析该地区SNPs的分布特征,并与其他16个地区汉族育龄期女性进行比较。结果该地区汉族女性MTHFR 677T基因型频率与眉山、九江、荆州和昆明相比差异无统计学意义(χ~2=1.55、5.01、1.14、0.68;P均>0.05),该地区汉族女性MTHFR 1298C基因型频率与淄博、廊坊、尚志、延边、琼海、郑州比差异有统计学意义(χ~2=44.69、25.29、13.23、6.80、7.21、6.80;P均<0.05),该地区汉族女性MTRR A66G基因型频率与淄博和琼海相比差异有统计学意义(χ~2=9.39、5.11;P均<0.05)。结论雅安市汉族女性MTRR及MTHFR基因的多态性频度分布具有地区特异性。
Objective To study the single nucleotide polymorphisms (SNPs) of 5,10-methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) gene in Han Chinese women in Ya’an, Distribution characteristics. Methods A total of 694 women of childbearing age in Han nationality from January 2014 to November 2015 in the Maternal and Child Health Care Hospital of Ya’an City of Sichuan Province were selected as research subjects by means of cross-sectional investigation and research method. Fluorescent quantitative PCR was used to detect the folic acid The polymorphisms of MTHFR C677T, A1298C and MTRR A66G, which are key enzymes in metabolism, were analyzed. The distribution of SNPs in the area was analyzed and compared with other Han nationality women of childbearing age in other 16 regions. Results There were no significant differences in the frequencies of MTHFR 677T genotypes between Han women in this region and those of Meishan, Jiujiang, Jingzhou and Kunming (χ ~ 2 = 1.55,5.01,1.14,0.68; P> 0.05). The frequency of MTHFR 1298C The frequencies of genotypes were significantly different from those of Zibo, Langfang, Shangzhi, Yanbian, Qionghai and Zhengzhou (χ ~ 2 = 44.69,25.29,13.23,6.80,7.21,6.80; P <0.05) The frequency of A66G genotype was significantly different from that of Zibo and Qionghai (χ ~ 2 = 9.39,5.11; P <0.05). Conclusion The frequency distribution of MTRR and MTHFR genes in Han nationality women in Ya’an is regionally specific.