Kozlowski Piotr, Jasinska Anna J, Kwiatkowski David J
Laboratory of Cancer Genetics, Institute of Bioorganic Chemistry, Polish Academy of Sciences, Poznan, Poland.
Electrophoresis. 2008 Dec;29(23):4627-36. doi: 10.1002/elps.200800126.
Multiplex ligation-dependent probe amplification (MLPA) is a commonly used technique for determining relative DNA sequence dosage (or copy number) in a complex DNA sample. Originally MLPA was designed as a copy number analysis tool for detecting disease-causing genomic mutations and has been successfully applied in the testing and identification of hundreds of genomic mutations in numerous genes including DMD, BRCA1, NF1, and TSC2. More recently, several modifications of the original technique have been implemented. Arguably the most important enhancement of MLPA has been probe generation by chemical synthesis, enabling the facile creation of novel probe sets for any desired application. Other newer applications of MLPA include methylation status determination, copy number analysis in segmentally duplicated regions, expression profiling, and transgene genotyping. MLPA has a potential major role in the analysis of common copy number variation in genome-wide association analyses, which may be enhanced by future improvements to increase throughput and lower costs, such as array-MLPA.
多重连接依赖探针扩增（MLPA）是一种常用技术，用于确定复杂DNA样本中的相对DNA序列剂量（或拷贝数）。最初，MLPA被设计为一种拷贝数分析工具，用于检测致病基因组突变，并已成功应用于检测包括DMD、BRCA1、NF1和TSC2在内的众多基因中的数百种基因组突变。最近，对原始技术进行了一些改进。可以说，MLPA最重要的改进是通过化学合成生成探针，从而能够轻松创建用于任何所需应用的新型探针组。MLPA的其他较新应用包括甲基化状态测定、片段重复区域的拷贝数分析、表达谱分析和转基因基因分型。MLPA在全基因组关联分析中常见拷贝数变异的分析中可能发挥重要作用，未来通过提高通量和降低成本的改进（如阵列MLPA）可能会进一步增强其作用。
