石家庄地区汉族女性亚甲基四氢叶酸还原酶基因多态性分布及相关研究  

The distribution characteristics of gene polymorphisms of methylenetetrahydrofolate reductase in Han nationality women in Shijiazhuang area of Hebei province

作　　者：韩振刚 史记 梁茹孟 刘佳佳[1] 孙静娜[1] 张征[1] 赵帅[1] HAN Zhengang;SHI Ji;LIANG Rumeng(Department of Clinical Laboratory,The First Hospital of Hebei Medical University,Hebei,Shijiazhuang 050031,China)

机构地区：[1]河北医科大学第一医院检验科

出　　处：《河北医药》2019年第22期3487-3490,共4页Hebei Medical Journal

摘　　要：目的研究河北省石家庄及周边地区汉族女性亚甲基四氢叶酸还原酶(MTHFR)677C/T基因多态性的分布特征,了解该地区MTHFR基因的遗传特征,为临床诊治与公共卫生预防提供遗传学依据。方法选取2016年12月至2018年11月来我院进行孕期或孕前检查的石家庄地区汉族女性共4765例,采集样本为EDTA抗凝全血,通过PCR荧光法测定其MTHFR基因677位点多态性。统计分析该地区基因多态性的分布特征,并与其他地区的数据进行比较。结果石家庄地区的汉族女性MTHFR基因型构成比为CC、TT及CT分别占13.01%,41.87%和45.12%,突变等位基因T的基因频率为64.43%。与其他地区的数据比较,发现其基因型构成比与淄博和郑州等地区的差异无统计学意义(P>0.05),而与其他地区(惠州,海南,乌鲁木齐,湖北等)的差异则有统计学意义(P<0.05);其等位突变基因T的基因频率与郑州地区的差异无统计学意义(P>0.05),与其他上述地区的差异有统计学意义(P<0.05);淄博、石家庄、郑州、湖北、云南、惠州、海南的突变等位基因MTHFR 677T的突变频率分别为为65.6%,64.43%,62.3%,39.5%,37.5%,29.5%和26.18%,由北到南呈现出减少趋势。我国地域跨度大,南北地区MTHFR基因多态性的分布存在较大差异,北方城市汉族女性较南方女性存在叶酸代谢障碍高风险。结论石家庄地区汉族女性MTHFR基因多态性的分布具有较明显的地区特征,超过4/5的女性具有略高或较高的叶酸代谢障碍风险,应因人而异,因地制宜,针对这部分人群制定个性化的叶酸补充指导措施。Objective To investigate the distribution characteristics of gene polymorphisms of methylenetetrahydrofolate reductase(MTHFR)677C/T in Han nationality women in Shijiazhuang area of Hebei province,in order to provide the genetic basis for clinical diagnosis and treatment and public health prevention.Methods A toatl of 4765 pregnant women who underwent progestation examination or pregnancy stage examination in our hospital from December of 2016 to November of 2018 were enrolled in the study.The specimens of EDTA-added whole blood were collected,and the gene polymorphisms of MTHFR on 677 sites were detected by fluorescent polymerase chain reaction methods,and the distribution characteristics of gene polymorphism were analyzed and compared with the data in the other regions.Results In the Han nationality women in Shijiazhuang area,the constituent ratio of genotypes of MTHFR,including CC,TT and CT,accounted for 13.01%,41.87%and 45.12%,respectively,and the gene frequency of mutant allele T was 64.43%.As compared those the data in Zibo city and Zhengzhou City,there was no significant difference in the genotype constituent ratio between Shijiazhuang area and Zibo city as well as Zhengzhou City(P>0.05).However there was significant differences in the gene frequency of mutant allele T between Shijiazhuang area and the other areaa including Huizhou City,Hainan City,Urumqi City and Hubei City(P<0.05).The mutation frequency of allele T had a trend of continous decrease form north areas to south areas.There were significant differences in distribution characteristics of gene polymorphisms of MTHFR between north areas and south areas,and the Han nationality women in north area had higher risk of folacin dysmetabolism than that in the women in south area.Conclusion The distribution of MTHFR gene polymorphism in Han nationality women in Shijiazhuang area of Hebei province has obvious regional characteristics.More than 80%of the women have slightly higher or higher risk of folic metabolism disorder.Therefore,it is necessary to mak

关 键 词：汉族女性 亚甲基四氢叶酸还原酶 MTHFR基因多态性 

分 类 号：R968[医药卫生—药理学]