陕西省延安地区汉族与国内其他地区育龄妇女MTHFR基因C677T位点基因型和等位基因分布研究

Comparative Study on MTHFR Gene C677T Locus Genotype and Allele Distribution between Han Nationality and Women of Childbearing Age in Yan’an Area of Shaanxi Province

目的调查并分析延安地区汉族育龄妇女亚甲基四氢叶酸还原酶(MTHFR)C677T基因多态性的频率特征,指导育龄女性合理补充叶酸。方法选取延安地区延安大学附属医院12557例汉族育龄妇女进行MTHFR C677T基因分型检测,并和国内多地区相关报道进行比较分析。结果延安地区MTHFR C677T位点基因的CC,CT和TT基因频率分别为25.5%,50.4%和24.0%,与尚志、长春、辽源、延边、张家口、怀来、北京、廊坊、涞水、烟台、淄博、潍坊、新乡、济源、郑州、镇江、麻城、德阳、郫县、南充、武汉、遂宁、英山、荆州、松滋、眉山、绍兴、九江、长沙、湘潭、昆明、河源、广州、惠州、南宁、珠海和琼海比较差异均有统计学意义(χ2=8.01~1167.916,P<0.05),与乌鲁木齐比较差异无统计学意义(χ2=4.602,0.640,P>0.05);MTHFR C677T等位基因分布与基因型分布情况类似。结论延安地区汉族育龄妇女MTHFR C677T基因多态性分布特征与其他地区相比,存在差异,且具有地域特异性。

Objective To investigate and analyze the frequency characteristics of MTHFR C677T gene polymorphism in women of childbearing age in Han nationality in Yan’an area,and guide women of childbearing age to reasonably supplement folic acid.Methods A total of 12557 Han women of childbearing age in the Affiliated Hospital of Yan’an University in Yan’an were selected for MTHFR C677T genotyping,and the results were compared with the related reports in many regions in China.Results The frequencies of CC,CT,and TT genes of MTHFR C677T loci in Yan’an area were 25.5%,50.4%and 24.0%,respectively,with Shangzhi,Changchun,Liaoyuan,Yanbian,Zhangjiakou,Huailai,Beijing,Langfang,Laishui,Yantai,Zibo,Weifang,Xinxiang,Jiyuan,Zhengzhou,Zhenjiang,Macheng,Deyang,Pixian,Nanchong,Wuhan,Suining,Yingshan,Jingzhou,Songzi,Meishan,Shaoxing,Jiujiang,Changsha,Xiangtan,Kunming,Heyuan,Guangzhou and Huizhou.The differences between Nanning,Zhuhai and Qionghai were statistically significant(χ2=8.01~1167.916,all P<0.05),but no significant difference compared with Urumqi(χ2=4.602,0.640,P>0.05).The distribution of MTHFR C677T alleles was similar to the distribution of genotypes.Conclusion Compared with other regions,the distribution characteristics of MTHFR C677T gene polymorphism in women of childbearing age in Yan’an area were different,and they were geographically specific.