English   español  
Please use this identifier to cite or link to this item: http://hdl.handle.net/10261/33679
Share/Impact:
Statistics
logo share SHARE logo core CORE   Add this article to your Mendeley library MendeleyBASE

Visualizar otros formatos: MARC | Dublin Core | RDF | ORE | MODS | METS | DIDL
Exportar a otros formatos:

Title

Novel MLPA procedure using self-designed probes allows comprehensive analysis for CNVs of the genes involved in Hirschsprung disease

AuthorsSánchez-Mejías, Avencia; Núñez-Torres, Rocío; Fernández, Raquel M.; Antiñolo, Guillermo ; Borrego, Salud
Issue Date11-May-2010
PublisherBioMed Central
CitationBMC Medical Genetics 11: 71 (2010)
Abstract[Background]: Hirschsprung disease is characterized by the absence of intramural ganglion cells in the enteric plexuses, due to a fail during enteric nervous system formation. Hirschsprung has a complex genetic aetiology and mutations in several genes have been related to the disease. There is a clear predominance of missense/nonsense mutations in these genes whereas copy number variations (CNVs) have been seldom described, probably due to the limitations of conventional techniques usually employed for mutational analysis. In this study, we have looked for CNVs in some of the genes related to Hirschsprung (EDNRB, GFRA1, NRTN and PHOX2B) using the Multiple Ligation-dependent Probe Amplification (MLPA) approach. [Methods]: CNVs screening was performed in 208 HSCR patients using a self-designed set of MLPA probes, covering the coding region of those genes. [Results]: A deletion comprising the first 4 exons in GFRA1 gene was detected in 2 sporadic HSCR patients and in silico approaches have shown that the critical translation initiation signal in the mutant gene was abolished. In this study, we have been able to validate the reliability of this technique for CNVs screening in HSCR. [Conclusions]: The implemented MLPA based technique presented here allows CNV analysis of genes involved in HSCR that have not been not previously evaluated. Our results indicate that CNVs could be implicated in the pathogenesis of HSCR, although they seem to be an uncommon molecular cause of HSCR.
Description7 páginas, 1 figura, 1 tabla.
Publisher version (URL)http://dx.doi.org/10.1186/1471-2350-11-71
URIhttp://hdl.handle.net/10261/33679
DOI10.1186/1471-2350-11-71
ISSN1471-2350
Appears in Collections:(IBIS) Artículos
Files in This Item:
File Description SizeFormat 
1471-2350-11-71.pdf782,45 kBAdobe PDFThumbnail
View/Open
Show full item record
Review this work
 

Related articles:


WARNING: Items in Digital.CSIC are protected by copyright, with all rights reserved, unless otherwise indicated.