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Medline ® Abstract for Reference 83

of 'Clinical features, diagnosis, and management of von Hippel-Lindau disease'

Use of the MLPA assay in the molecular diagnosis of gene copy number alterations in human genetic diseases.
Stuppia L, Antonucci I, Palka G, Gatta V
Int J Mol Sci. 2012;13(3):3245-76. Epub 2012 3 08.
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.
Department of Oral Sciences, Nano and Biotechnologies, "G. d'Annunzio" University, Via dei Vestini 31, 66013 Chieti, Italy; E-Mails: i.antonucci@unich.it (I.A.); gdpalka@unich.it (G.P.); v.gatta@unich.it (V.G.).