use of the mlpa assay in the molecular diagnosis of gene copy number alterations in human genetic diseases使用mlpa分子诊断试验的基因拷贝数改变人类遗传疾病.pdfVIP

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use of the mlpa assay in the molecular diagnosis of gene copy number alterations in human genetic diseases使用mlpa分子诊断试验的基因拷贝数改变人类遗传疾病.pdf

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use of the mlpa assay in the molecular diagnosis of gene copy number alterations in human genetic diseases使用mlpa分子诊断试验的基因拷贝数改变人类遗传疾病

Int. J. Mol. Sci. 2012, 13, 3245-3276; doi:10.3390/ijm OPEN ACCESS International Journal of Molecular Sciences ISSN 1422-0067 /journal/ijms Review Use of the MLPA Assay in the Molecular Diagnosis of Gene Copy Number Alterations in Human Genetic Diseases Liborio Stuppia *, Ivana Antonucci, Giandomenico Palka and Valentina Gatta 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.) * Author to whom correspondence should be addressed; E-Mail: stuppia@unich.it; Tel.: +39-0871-3555300; Fax: +39-0871-3555341. Received: 30 December 2011; in revised form: 28 February 2012 / Accepted: 29 February 2012 / Published: 8 March 2012 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