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

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Author(s): Liborio Stuppia | Ivana Antonucci | Giandomenico Palka | Valentina Gatta

Journal: International Journal of Molecular Sciences
ISSN 1422-0067

Volume: 13;
Issue: 3;
Start page: 3245;
Date: 2012;
Original page

Keywords: gene copy number | MLPA | CNV | molecular diagnosis | genetic disease

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.
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