在众多导致人类疾病的基因有义突变、病原体亚型以及耐药基因的有义突变中 ,单碱基突变占了相当大的比例 ,其检测方法的探索一直是基因诊断研究中的重要课题。本文着重介绍了几种近年发展起来的新技术 :反向限制性位点突变分析 (i RSM)、荧光 PCR(SYBR Green I结合熔解曲线分析技术、荧光共振能量转移 (FRET)结合探针熔解曲线分析技术 )、基因芯片、等位基因特异性扩增技术 (ASPCR) In many sense mutations leading to human diseases, pathogen subtypes and sense mutations in gene mutations, single-base mutation accounts for a large proportion of its detection methods of exploration has been an important issue in gene diagnosis research. This article highlights several new technologies developed in recent years: reverse-directed site mutation analysis (i RSM), fluorescence PCR (SYBR Green I with melting curve analysis, fluorescence resonance energy transfer (FRET) with probe melting curve Analytical techniques), gene chips, allele-specific amplification (ASPCR)