PCR-荧光探针法检测汾阳地区女性亚甲基四氢叶酸还原酶基因多态性分析  

PCR-Fluorescence Probing analysis of women′s MTHFR gene C677T in Fenyang city

作　　者：刘玉玲 朱旭峰 刘利 刘燕楠 LIU Yu-ling;ZHU Xu-feng;LIU Li;LIU Yan-nan(Department of Medical Inspection,Fenyang College of shanxi Medical University, Fenyang,032200;Laboratory of Molecular Genetics,Fenyang Hospital of Shanxi Province)

机构地区：[1]山西医科大学汾阳学院检验系,山西汾阳032200 [2]山西省汾阳医院分子遗传实验室

出　　处：《中国优生与遗传杂志》2018年第12期16-17,10,共3页Chinese Journal of Birth Health & Heredity

基　　金：山西医科大学汾阳学院人才引进启动金基金项目(编号:2016D06)

摘　　要：目的运用PCR-荧光探针法技术对汾阳地区女性进行亚甲基四氢叶酸还原酶基因(MTHFR)分型检测,以指导临床个体补充叶酸提供科学依据,并为了解汾阳地区人群MTHFR基因分型遗传构成提供基础数据。方法 EDTA抗凝管收集医院就诊女性的外周血2ml,提取其中的DNA并结合荧光定量聚合酶链式反应,运用探针检测MTHFR基因677C/T多态性位点的基因型,对本地女性群体该位点碱基C/T的分布频率进行统计学分析。结果汾阳地区女性群体中携带CC、CT、TT基因型频率为16.2%,47.9%和35.9%;C和T等位基因频率分别为40.1%和59.9%。结论本研究说明,PCR-探针法是一种快速的,多样本检测方法,利用探针的特异性对亚甲基四氢叶酸还原酶基因位点进行特异性检测。Objective:Using PCR-Fluorescence Probing technology to genotype for methylenetetra hydrofolate reductase gene(MTHFR)of women in Fenyang,in order to provide scientific basis for guiding clinical individuals to take Folate supplementation,and also provide the basic data for understanding the genetic composition of MTHFR genotype in Fenyang area. Methods:Collected 2 ml inperipheral blood of women by the EDTA anticoagulant tube,extracted DNA and combined with the PCR-Fluorescence Probing method for the determination of MTHFR 677 gene,analyzed the frequency distribution of statistical local area women′s groups. Results:The frequency of CC,CT and TT genotype in Fenyang area was 16.2%,47.9% and 35.9%;C and T allele frequencies were 40.1% and 59.9% respectively. Conclusion:This study shows that the PCR-Fluorescence Probing is a rapid and multiple samples detection method which uesd the specificity probe to detect the gene loci of MTHFR.

关 键 词：汾阳 亚甲基四氢叶酸还原酶 PCR-荧光探针技术 基因多态性 

分 类 号：R394.3[医药卫生—医学遗传学]