遗传性β地中海贫血病CD17点突变的快速简便检测

Rapid and Simple Detection for CD17 Point Mutation of β-thalassemia Disease

利用聚合酶延伸技术及双链特异性嵌入染料的特性,建立了一种快速简便的基因点突变的检测方法.在特定引物聚合过程中,不同基因型的聚合反应进程被实时转换为荧光信号,通过监测荧光信号的变化实现基因点突变的快速检测,不需要复杂的凝胶电泳、荧光和同位素标记等操作.通过对β珠蛋白基因CD17点突变的检测,证实该方法是一种廉价、简便、快速的筛查遗传性地中海贫血病β珠蛋白基因CD17点突变的方法,该方法可扩展到各种基因的点突变检测.

A rapid and simple point mutation genotyping method is developed based on polymerase specific extension and duplex inseting dye. The polymerization information of genotypes has been directly converted into fluorescent signal during polymerization process. The method need not complicated electrophoresis and fluorescence or isotope label. It is a fast, simple and cost-efficient method. Using the proposed method, the CD17 point mutation in the β-thalassemia has been detected accurately and rapidly.The method also has potential use in other point mutation detection in clinic diagnose.