Dalay Nejat
Oncology Institute, Istanbul University, Istanbul, Turkey.
Methods Mol Biol. 2018;1726:7-18. doi: 10.1007/978-1-4939-7565-5_2.
Multiplex ligation-dependent probe amplification (MLPA) is based on simultaneous multiplex PCR of specific probes that hybridize to multiple different target DNA regions. The method can identify copy number changes, gross gene rearrangements, methylation patterns or even point mutations. MLPA has been a reliable approach to identify copy number changes in the clinical and research settings and is widely used for the screening and investigation of copy number variations and genomic aberrations of interest in various diseases. In this chapter the analysis of the copy number changes in the RB1 gene locus by MLPA is described.
多重连接依赖探针扩增（MLPA）基于对与多个不同目标DNA区域杂交的特定探针进行同步多重PCR。该方法可识别拷贝数变化、大片段基因重排、甲基化模式甚至点突变。MLPA一直是在临床和研究环境中识别拷贝数变化的可靠方法，广泛用于各种疾病中感兴趣的拷贝数变异和基因组畸变的筛查与研究。本章描述了通过MLPA分析RB1基因座的拷贝数变化。
