多重连接依赖式探针扩增技术在遗传病分子诊断中的应用

Application of multiplex ligation-dependent probe amplification in the molecular diagnosis of genetic disease

多重连接依赖式探针扩增技术(multiplex ligation-dependent probe amplification,MLPA)是近年发展起来的基因检测新技术,可通过简单的杂交(hybridization)、连接(ligation)及PCR(polymerase chain reaction)扩增反应于同一管内同时检测出多达40种基因组DNA或RNA拷贝数变化。凭借其操作简单、高通量、稳定可靠等特点,该技术在遗传病的分子诊断等领域的应用已得到迅速的推广,本文就MLPA技术的原理、特点以及在遗传病分子诊断中的实际应用等作一综述。

Multiplex ligation-dependent probe amplification（MLPA） is a new technique that hold the ability to detect at most 40 genomic DNA or RNA in copy number＇s variation by hybridization, ligation and PCR amplification in only one tube. With the advantages of simplicity, high-throughput, robustness and so on, the application of MLPA has been spreading rapidly in many fields, especially molecular diagnosis of genetic disease. We review the principle, features and application of MLPA in genetic disease.