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目的建立一种中国人群运动性猝死相关基因多态性速测方法。方法用Chelex法提取外周静脉血基因组DNA，应用定点突变技术获得运动性猝死相关基因的突变阳性DNA模板，然后通过等位基因特异性(al ele-specific, AS)PCR法扩增目的基因。优化内参引物、多态引物的Tm值，引物浓度比例，PCR循环数等扩增条件；琼脂糖凝胶电泳进行基因分型。结果 AS-PCR可检测运动性猝死相关基因多态性，PCR产物琼脂糖凝胶分型与DNA测序结果完全一致。结论本研究建立的AS-PCR方法适用于中国人群运动性猝死相关基因的快速检测。“,”Objective To establish a simple method for testing exercise sudden death gene of Chinese. Methods Firstly, extract genomic DNA from peripheral venous blood. Secondly, use fixed point mutation technique to get the positive template, and then use the al ele specific (al ele specific, AS) PCR to amply the target gene. Thirdly, optimize the Tm value and concentration ratio of primers, PCR cycle number and a series of amplification conditions. Final y, analyze the PCR product by agarose gel electrophoresis and sequencing. Results The AS-PCR can detect sudden cardiac death gene polymorphism, the agarose gel electrophoresis genotyping results of PCR product coincide exactly with the result of DNA sequencing .Conclusion This new method established and optimized can be used for rapid detection of exercise sudden death related genes.