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目的调查珠海地区汉族女性MTHFR、MTRR基因多态性分布特征。方法采用横断面调查研究方法,以珠海市2 138例汉族女性为研究对象,采集口腔黏膜上皮细胞,提取基因组DNA,采用Taqman-MGB技术,进行MTHFR和MTRR基因多态性检测。统计分析该地区汉族女性基因多态性的分布特征,并与已报道地区进行比较,为进一步降低出生缺陷及孕产妇疾病提供分子医学理论依据。结果珠海市汉族女性MTHFR基因C677T基因型和等位基因频率与延边(汉族)、廊坊、济源、淄博、镇江、松滋、湘潭、眉山和惠州等地差异有统计学意义(P<0.05)。MTHFR基因A1298C位点基因型和等位基因频率与延边(汉族)、廊坊、济源、淄博、镇江、松滋、湘潭和眉山等地差异有统计学意义(P<0.05),MTRR基因A66G位点基因型和等位基因频率与延边(汉族)、廊坊、济源、淄博、镇江和琼海等地差异有统计学意义(P<0.05)。结论珠海市汉族女性的MTHFR、MTRR基因频率分布有自身特点。
Objective To investigate the distribution of MTHFR and MTRR gene polymorphism in Han women in Zhuhai area. METHODS: A total of 2 138 Han women in Zhuhai were enrolled in this study. Oral mucosal epithelial cells were collected and genomic DNA was extracted. MTHFR and MTRR gene polymorphisms were detected by Taqman-MGB technique. Statistical analysis of the distribution characteristics of Han women genetic polymorphism in the region, and compared with reported areas, to provide molecular medicine to further reduce birth defects and maternal diseases. Results The frequency of C677T genotype and allele of MTHFR gene in Zhuang Han women was significantly different from that in Yanbian (Han nationality), Langfang, Jiyuan, Zibo, Zhenjiang, Songzi, Xiangtan, Meishan and Huizhou areas (P <0.05). The genotype and allele frequencies of A1298C locus in MTHFR gene were significantly different from those in Yanbian (Han nationality), Langfang, Jiyuan, Zibo, Zhenjiang, Songzi, Xiangtan and Meishan (P <0.05) The genotype and allele frequencies were significantly different from those in Yanbian (Han nationality), Langfang, Jiyuan, Zibo, Zhenjiang and Qionghai (P <0.05). Conclusion MTHFR and MTRR gene frequency distribution of Han women in Zhuhai has its own characteristics.