Int. J. Mol. Sci. 2012, 13(3), 3245-3276; doi:10.3390/ijms13033245
Article

Use of the MLPA Assay in the Molecular Diagnosis of Gene Copy Number Alterations in Human Genetic Diseases

Department of Oral Sciences, Nano and Biotechnologies, “G. d’Annunzio” University, Via dei Vestini 31, 66013 Chieti, Italy
* Author to whom correspondence should be addressed.
Received: 30 December 2011; in revised form: 28 February 2012 / Accepted: 29 February 2012 / Published: 8 March 2012
(This article belongs to the Special Issue Advances in Molecular Diagnostics)
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Abstract: 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.
Keywords: gene copy number; MLPA; CNV; molecular diagnosis; genetic disease

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MDPI and ACS Style

Stuppia, L.; Antonucci, I.; Palka, G.; Gatta, V. Use of the MLPA Assay in the Molecular Diagnosis of Gene Copy Number Alterations in Human Genetic Diseases. Int. J. Mol. Sci. 2012, 13, 3245-3276.

AMA Style

Stuppia L, Antonucci I, Palka G, Gatta V. Use of the MLPA Assay in the Molecular Diagnosis of Gene Copy Number Alterations in Human Genetic Diseases. International Journal of Molecular Sciences. 2012; 13(3):3245-3276.

Chicago/Turabian Style

Stuppia, Liborio; Antonucci, Ivana; Palka, Giandomenico; Gatta, Valentina. 2012. "Use of the MLPA Assay in the Molecular Diagnosis of Gene Copy Number Alterations in Human Genetic Diseases." Int. J. Mol. Sci. 13, no. 3: 3245-3276.

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