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目的研究云南省保山市隆阳地区汉族女性亚甲基四氢叶酸还原酶(MTHFR)和甲硫氨酸合成酶还原酶(MTRR)基因多态性的分布特征。方法选取2016年1月-2017年2月在云南省保山市妇幼保健院进行孕前检查及产检的汉族妇女1 306例为研究对象。采集口腔黏膜上皮细胞,获得基因组DNA,运用Taqman-MGB技术,检测MTHFR和MTRR基因多态性。分析该地区汉族女性基因多态性的分布特征,并与已有报道进行比较,为进一步降低出生缺陷及孕产妇疾病提供理论依据。结果保山市汉族女性MTHFR C677T位点的基因型频率和等位基因型频率与尚志、乌鲁木齐、辽源、银川、烟台、郑州、镇江、九江、湘潭、南宁、琼海地区比较,差异有统计学意义(P<0.05)。MTHFR A1298C位点的基因型频率和等位基因型频率与烟台、武汉、九江、湘潭、南宁、琼海地区比较,差异有统计学意义(P<0.05)。MTRR A66G位点的基因型频率与辽源、烟台、郑州、镇江、武汉、眉山地区比较,差异有统计学意义(P<0.05);MTRR A66G位点的等位基因频率与辽源、银川、烟台、郑州、镇江、武汉、九江、湘潭、南宁地区比较,差异有统计学意义(P<0.05)。结论保山市汉族女性MTHFR和MTRR基因频率分布具有当地特异性,可有针对性地制定个性化孕期叶酸增补方案。
Objective To investigate the distribution of methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) gene polymorphisms in Han women in Longyang, Baoshan City, Yunnan Province. Methods From January 2016 to February 2017, 1 306 Han women were enrolled in the Maternal and Child Health Care Hospital of Baoshan City, Yunnan Province. Oral mucosal epithelial cells were collected and genomic DNA was obtained. The MTHFR and MTRR gene polymorphisms were detected by Taqman-MGB technique. Analysis of the distribution characteristics of the Han female genetic polymorphism in this area, and compared with the previous reports, to provide a theoretical basis for further reducing birth defects and maternal diseases. Results The frequencies of genotype and allele of MTHFR C677T locus in Han women in Baoshan were significantly different from those in Shangzhi, Urumqi, Liaoyuan, Yinchuan, Yantai, Zhengzhou, Zhenjiang, Jiujiang, Xiangtan, Nanning and Qionghai areas (P <0.05). The genotype frequency and allele frequency of MTHFR A1298C locus were significantly different from those in Yantai, Wuhan, Jiujiang, Xiangtan, Nanning and Qionghai regions (P <0.05). The genotype frequency of MTRR A66G locus was significantly different from that of Liaoyuan, Yantai, Zhengzhou, Zhenjiang, Wuhan and Meishan (P <0.05). The allele frequency of M66R A66G locus was significantly higher than that of Liaoyuan, Yinchuan, Yantai, Zhengzhou, Zhenjiang, Wuhan, Jiujiang, Xiangtan, Nanning, the difference was statistically significant (P <0.05). Conclusion The frequency distribution of MTHFR and MTRR genes in Han nationality women in Baoshan is local and can be tailored to individualized folic acid supplementation during pregnancy.