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.
Highlights
The majority of human hereditary diseases are due to abnormalities in the DNA sequence of specific genes, gene deletions or duplications represent a relevant portion of all disease-causing mutations, and in some cases are the most frequent cause of a genetic disease, such as in the cases of Duchenne Muscular Dystropy (DMD) or Spinal Muscular Atrophy (SMA) [1,2,3]
A complete gene duplication can lead to a disease due to the presence of an extra copy of the gene, while a partial duplication can lead to a loss of function for that gene copy, such as in the case of DMD where duplications affect some exons within the gene, but not the entire gene
Among the different approaches used in recent years for the detection of gene deletions/duplications or for the validation of array Comparative Genomic Hybridization (CGH) results in the analysis of Copy Number Variation (CNV), particular interest has been devoted to the Multiplex Ligation-dependent Probe Amplification (MLPA) assay (Table 1) [6]
Summary
The majority of human hereditary diseases are due to abnormalities in the DNA sequence of specific genes (point mutations), gene deletions or duplications represent a relevant portion Among the different approaches used in recent years for the detection of gene deletions/duplications or for the validation of array CGH results in the analysis of CNVs, particular interest has been devoted to the Multiplex Ligation-dependent Probe Amplification (MLPA) assay (Table 1) [6]. This technique is able to analyze in a single reaction up to 50 DNA sequences and to detect copy number variation of specific genes, including small intragenic rearrangements. Assay and other methods for the detection of gene deletions/duplications
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