RT Journal Article
T1 Novel MLPA procedure using self-designed probes allows comprehensive analysis for CNVs of the genes involved in Hirschsprung disease.
A1 Sánchez-Mejías, Avencia
A1 Núñez-Torres, Rocío
A1 Fernández, Raquel M.
A1 Antiñolo, Guillermo
A1 Borrego, Salud
K1 Enfermedad de Hirschsprung
K1 Variaciones en el Número de Copia de ADN
K1 Técnicas de Amplificación de Ácido Nucleico
K1 Humanos
AB 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 inseveral 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 ofHSCR, although they seem to be an uncommon molecular cause of HSCR.
PB BioMed Central
YR 2010
FD 2010-05-11
LK http://hdl.handle.net/10668/394
UL http://hdl.handle.net/10668/394
LA en
NO Sánchez-Mejías A, Núñez-Torres R, Fernández RM, Antiñolo G, Borrego S. Novel MLPA procedure using self-designed probes allows comprehensive analysis for CNVs of the genes involved in Hirschsprung disease. BMC Med Genet. 2010 May 11;11:71.
NO Research article
DS RISalud
RD Apr 16, 2025