Stuppia Liborio, Antonucci Ivana, Palka Giandomenico, Gatta Valentina
Department of Oral Sciences, Nano and Biotechnologies, "G. d'Annunzio" University, Via dei Vestini 31, 66013 Chieti, Italy.
Int J Mol Sci. 2012;13(3):3245-3276. doi: 10.3390/ijms13033245. Epub 2012 Mar 8.
Multiplex Ligation-dependent Probe Amplification (MLPA) assay is a recently developed technique able to evidence variations in the copy number of several human genes. Due to this ability, MLPA can be used in the molecular diagnosis of several genetic diseases whose pathogenesis is related to the presence of deletions or duplications of specific genes. Moreover, MLPA assay can also be used in the molecular diagnosis of genetic diseases characterized by the presence of abnormal DNA methylation. Due to the large number of genes that can be analyzed by a single technique, MLPA assay represents the gold standard for molecular analysis of all pathologies derived from the presence of gene copy number variation. In this review, the main applications of the MLPA technique for the molecular diagnosis of human diseases are described.
多重连接依赖探针扩增（MLPA）检测是一项最近开发的技术，能够证实多个人类基因拷贝数的变化。由于具备这种能力，MLPA可用于多种遗传疾病的分子诊断，这些疾病的发病机制与特定基因的缺失或重复有关。此外，MLPA检测还可用于以异常DNA甲基化为特征的遗传疾病的分子诊断。由于单一技术可分析大量基因，MLPA检测代表了所有因基因拷贝数变异而引发的疾病分子分析的金标准。在本综述中，描述了MLPA技术在人类疾病分子诊断中的主要应用。
