中文摘要：

肿瘤靶向药物治疗需要检测特异性的基因突变。尽管已开发出多种基于模板扩增的基因突变检测方法,但由于存在扩增产物交叉污染的风险,其应用受到极大限制。基于信号扩增的核酸侵入反应,由于不存在扩增产物污染的风险,并且具有良好的单碱基识别特异性,非常适用于基因突变的检测。因此,一系列基于核酸侵入反应的基因突变检测方法应运而生。综述若干基于核酸侵入反应的基因突变检测方法原理与应用研究。

英文摘要：

The detection of drug-sensitive gene mutations is required especially in tumor-targeted therapies. Although a number of template amplification-based gene mutation detection methods have been developed, the increased risk of cross-contamination from amplicons limits their applications. In contrast, signal amplification-based invasive reaction, with no risk of contamination from amplicons and a high specificity of singlebase discrimination, is more suitable for mutation detection. Therefore, many invasive reaction-based gene mutation detection methods have been developed. The principles and applications of several invasive reaction-based gene mutation detection methods were reviewed.