原创力文档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
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
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