实时荧光定量PCR法检测MTHFR C677T基因多态性方法的建立和应用  

Establishment and Application of Real - time Fluorescence Quantitative RT - PCR for Detecting MTHFR Gene C677T Polymorphism.

作　　者：徐航 王琳 王毅 马旭 

机构地区：[1]国家人口计生委科研所,北京100081

出　　处：《中国计划生育学杂志》2004年第5期287-289,共3页Chinese Journal of Family Planning

基　　金："973"001CB510309资助

摘　　要：目的:建立一种准确、快速、自动化程度较高的检测亚甲基四氢叶酸还原酶(MTHFR)C677T基因多态性的方法,并观察中国北方健康人群中MTHFR C677T基因频率。方法:应用MGB探针的原理建立MTHFR C677T基因多态的检测方法,与传统PCR-RFLP方法作对照,共检测标本88例,并计算各基因型频率。结果:荧光定量方法可以快速完成MTHFR C677T基因多态性的检测,检测结果得到传统PCR-RFLP方法的证实。88例北京汉族正常人群MTHFR基因的各种基因型频率为25％、42％和33％。结论:该方法准确、检测效率高,适用于临床实验室及流行病学调查研究。Objective: To establish a real -time fluorescence quantitative RT- PCR for detecting MTHFR gene C677T polymorphism and to observe the genotypic frequency among good - health people in the north area of china. Methods: Genotypic frequency in 88 samples was detected by RT - PCR comparing with traditional PCR - RELP. Results : Detection of MTHFR gene C677T polymorphism was quickly finished by realtime fluorescence quantitative RT - PCR, and the results were proved to be effective by PCR - RFLP. Varied genotypic frequency of MTHFR gene among 88 people of Beijing is 25%, 42% and 33%, respectively. Conclusion : Real - time fluorescence quantitative RT - PCR is an accurate, efficient method for detecting MTHFR gene C677T polymorphism, and suit clinical laboratories in the research of epidemic diseases.

关 键 词：实时荧光定量PCR法 MTHFR C677T基因 基因多态性 序列 神经管 

分 类 号：R346[医药卫生—基础医学]