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

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 pre...

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Detalles Bibliográficos
Autores principales: Stuppia, Liborio, Antonucci, Ivana, Palka, Giandomenico, Gatta, Valentina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Diversity Preservation International (MDPI) 2012
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3317712/
https://www.ncbi.nlm.nih.gov/pubmed/22489151
http://dx.doi.org/10.3390/ijms13033245
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author Stuppia, Liborio
Antonucci, Ivana
Palka, Giandomenico
Gatta, Valentina
author_facet Stuppia, Liborio
Antonucci, Ivana
Palka, Giandomenico
Gatta, Valentina
author_sort Stuppia, Liborio
collection PubMed
description 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.
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spelling pubmed-33177122012-04-09 Use of the MLPA Assay in the Molecular Diagnosis of Gene Copy Number Alterations in Human Genetic Diseases Stuppia, Liborio Antonucci, Ivana Palka, Giandomenico Gatta, Valentina Int J Mol Sci Review 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. Molecular Diversity Preservation International (MDPI) 2012-03-08 /pmc/articles/PMC3317712/ /pubmed/22489151 http://dx.doi.org/10.3390/ijms13033245 Text en © 2012 by the authors; licensee Molecular Diversity Preservation International, Basel, Switzerland. http://creativecommons.org/licenses/by/3.0 This article is an open-access article distributed under the terms and conditions of the Creative Commons Attribution license (http://creativecommons.org/licenses/by/3.0/).
spellingShingle Review
Stuppia, Liborio
Antonucci, Ivana
Palka, Giandomenico
Gatta, Valentina
Use of the MLPA Assay in the Molecular Diagnosis of Gene Copy Number Alterations in Human Genetic Diseases
title Use of the MLPA Assay in the Molecular Diagnosis of Gene Copy Number Alterations in Human Genetic Diseases
title_full Use of the MLPA Assay in the Molecular Diagnosis of Gene Copy Number Alterations in Human Genetic Diseases
title_fullStr Use of the MLPA Assay in the Molecular Diagnosis of Gene Copy Number Alterations in Human Genetic Diseases
title_full_unstemmed Use of the MLPA Assay in the Molecular Diagnosis of Gene Copy Number Alterations in Human Genetic Diseases
title_short Use of the MLPA Assay in the Molecular Diagnosis of Gene Copy Number Alterations in Human Genetic Diseases
title_sort use of the mlpa assay in the molecular diagnosis of gene copy number alterations in human genetic diseases
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3317712/
https://www.ncbi.nlm.nih.gov/pubmed/22489151
http://dx.doi.org/10.3390/ijms13033245
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