RT Journal Article
T1 A novel study of copy number variations in Hirschsprung disease using the multiple ligation-dependent probe amplification (MLPA) technique.
A1 Núñez-Torres, Rocío
A1 Fernández, Raquel M.
A1 López-Alonso, Manuel
A1 Antiñolo, Guillermo
A1 Borrego, Salud
K1 Endotelina-3
K1 Enfermedad de Hirschsprung
K1 Técnicas de Amplificación de Ácido Nucleico
K1 Proteínas Proto-Oncogénicas c-ret
K1 Secuencias Reguladoras del Ácido Nucleico
K1 España
K1 Variaciones en el Número de Copia de ADN
AB BACKGROUNDHirschsprung disease (HSCR) is a congenital malformation of the hindgut produced by a disruption in neural crest cell migration during embryonic development. HSCR has a complex genetic etiology and mutations in several genes, mainly the RET proto-oncogene, 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.METHODSIn this study we have aimed to analyze the presence of CNVs in some HSCR genes (RET, EDN3, GDNF and ZFHX1B) using the Multiple Ligation-dependent Probe Amplification (MLPA) approach.RESULTSTwo alterations in the MLPA profiles of RET and EDN3 were detected, but a detailed inspection showed that the decrease in the corresponding dosages were due to point mutations affecting the hybridization probes regions.CONCLUSIONOur results indicate that CNVs of the gene coding regions analyzed here are not a common molecular cause of Hirschsprung disease. However, further studies are required to determine the presence of CNVs affecting non-coding regulatory regions, as well as other candidate genes.
PB BioMed Central
YR 2009
FD 2009-11-19
LK http://hdl.handle.net/10668/1689
UL http://hdl.handle.net/10668/1689
LA en
NO Núñez-Torres R, Fernández RM, López-Alonso M, Antiñolo G, Borrego S. A novel study of copy number variations in Hirschsprung disease using the multiple ligation-dependent probe amplification (MLPA) technique. BMC Med. Genet. 2009; 10:119
NO Journal Article; Research Support, Non-U.S. Gov't;
DS RISalud
RD Apr 19, 2025