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目的调查齐齐哈尔市汉族女性叶酸代谢通路关键酶亚甲基四氢叶酸还原酶(methylenetetrahydrofolate reductase,MTHFR)C677T、A1298C位点基因多态性的分布特征。方法选择2014年10月-2015年10月在齐齐哈尔医学院附属第三医院进行孕前或孕期检查的汉族女性,依据知情同意的原则采集入组人群的口腔黏膜细胞并进行检测,提取基因组DNA,采用荧光定量PCR技术,对MTHFR C677T和A1298C位点进行检测。统计分析检测结果,并与我国其他代表性区域的数据进行比较。结果齐齐哈尔市汉族女性的MTHFR 677TT基因型频率为26.2%,该位点的多态性分布特征与乌鲁木齐、廊坊、济源、苏州、眉山、湘潭、惠州、南宁及珠海等地人群相比,差异均有统计学意义(均P<0.05);MTHFR 1298CC基因型频率为3.5%,该位点的多态性分布特征与湘潭、惠州、南宁及珠海等地人群相比,差异均有统计学意义(均P<0.05)。结论齐齐哈尔市女性MTHFR基因多态性分布特征不同于其他地区。
Objective To investigate the distribution of polymorphisms in methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C in Han nationality women in Qiqihar. Methods From October 2014 to October 2015, Han women in pre-pregnancy or pregnancy test in the Third Affiliated Hospital of Qiqihar Medical College collected oral mucosal cells from the population according to the principle of informed consent and extracted the genomic DNA. Fluorescent quantitative PCR was performed on MTHFR C677T and A1298C sites. The results of the statistical analysis were compared with the data of other representative regions in our country. Results The frequency of MTHFR 677TT genotype in Han nationality in Qiqihar City was 26.2%. The distribution of polymorphism in this locus was significantly different from those in Urumqi, Langfang, Jiyuan, Suzhou, Meishan, Xiangtan, Huizhou, Nanning and Zhuhai (P <0.05). The genotype frequency of MTHFR 1298CC was 3.5%. The polymorphism distribution of MTHFR 1298CC was significantly different from that in Xiangtan, Huizhou, Nanning and Zhuhai (P <0.05) All P <0.05). Conclusion The distribution of MTHFR gene polymorphism in Qiqihar women is different from other regions.