Caracterización clínico - molecular de la enfermedad granulomatosa crónica autosómica recesiva causada por déficit de p47-phox

Background: The cytosolic protein p47-phox (phagocyte oxidase) is one of the essential components of the superoxide generating system in phagocytes and its defect causes approximately 30% of the chronic granulomatous disease (CGD) cases. Aim: Two patients were studied, belonging to the same family,...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	Cornejo De L,Mónica, López Q,Juan A., Navarro V,Sara, García de O,Diana, Patiño G.,Pablo J
Lenguaje:	Spanish / Castilian
Publicado:	Sociedad Médica de Santiago 2000
Materias:	DNA mutational analysis Granulomatous disease, chronic NADPH oxidase Respiratory burst
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872000000500006
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:scielo:S0034-98872000000500006
record_format	dspace
spelling	oai:scielo:S0034-988720000005000062004-06-22Caracterización clínico - molecular de la enfermedad granulomatosa crónica autosómica recesiva causada por déficit de p47-phoxCornejo De L,MónicaLópez Q,Juan A.Navarro V,SaraGarcía de O,DianaPatiño G.,Pablo J DNA mutational analysis Granulomatous disease, chronic NADPH oxidase Respiratory burst Background: The cytosolic protein p47-phox (phagocyte oxidase) is one of the essential components of the superoxide generating system in phagocytes and its defect causes approximately 30% of the chronic granulomatous disease (CGD) cases. Aim: Two patients were studied, belonging to the same family, without a consanguinous background, in which deficiency or absence of superoxide generation was found together with recurrent and severe infections in one case and benign infections in the second. Methods: The presence of gp91-, p67- and p47-phox in patients and controls was determined by Western Blot analysis of granulocytes. Sequencing of PCR amplified DNA was performed by an enzimatic method. Results: Western Blot analysis showed normal expression of gp91 and p67 and absence of p47-phox. The molecular genetic study demonstrated a homocygotic dinucleotide GT (GT) deletion at the beginning of exon 2 of the p47-phox gene. The same mutation has been found in European, American and Japanese patients. Conclusions: The molecular characterization of this pathology done for the first time in Chile is important for diagnostic classification, patient prognosis, and adequate genetic advice and a possible future therapy. (Rev Méd Chile 2000; 128: 490-8).info:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.128 n.5 20002000-05-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872000000500006es10.4067/S0034-98872000000500006
institution	Scielo Chile
collection	Scielo Chile
language	Spanish / Castilian
topic	DNA mutational analysis Granulomatous disease, chronic NADPH oxidase Respiratory burst
spellingShingle	DNA mutational analysis Granulomatous disease, chronic NADPH oxidase Respiratory burst Cornejo De L,Mónica López Q,Juan A. Navarro V,Sara García de O,Diana Patiño G.,Pablo J Caracterización clínico - molecular de la enfermedad granulomatosa crónica autosómica recesiva causada por déficit de p47-phox
description	Background: The cytosolic protein p47-phox (phagocyte oxidase) is one of the essential components of the superoxide generating system in phagocytes and its defect causes approximately 30% of the chronic granulomatous disease (CGD) cases. Aim: Two patients were studied, belonging to the same family, without a consanguinous background, in which deficiency or absence of superoxide generation was found together with recurrent and severe infections in one case and benign infections in the second. Methods: The presence of gp91-, p67- and p47-phox in patients and controls was determined by Western Blot analysis of granulocytes. Sequencing of PCR amplified DNA was performed by an enzimatic method. Results: Western Blot analysis showed normal expression of gp91 and p67 and absence of p47-phox. The molecular genetic study demonstrated a homocygotic dinucleotide GT (GT) deletion at the beginning of exon 2 of the p47-phox gene. The same mutation has been found in European, American and Japanese patients. Conclusions: The molecular characterization of this pathology done for the first time in Chile is important for diagnostic classification, patient prognosis, and adequate genetic advice and a possible future therapy. (Rev Méd Chile 2000; 128: 490-8).
author	Cornejo De L,Mónica López Q,Juan A. Navarro V,Sara García de O,Diana Patiño G.,Pablo J
author_facet	Cornejo De L,Mónica López Q,Juan A. Navarro V,Sara García de O,Diana Patiño G.,Pablo J
author_sort	Cornejo De L,Mónica
title	Caracterización clínico - molecular de la enfermedad granulomatosa crónica autosómica recesiva causada por déficit de p47-phox
title_short	Caracterización clínico - molecular de la enfermedad granulomatosa crónica autosómica recesiva causada por déficit de p47-phox
title_full	Caracterización clínico - molecular de la enfermedad granulomatosa crónica autosómica recesiva causada por déficit de p47-phox
title_fullStr	Caracterización clínico - molecular de la enfermedad granulomatosa crónica autosómica recesiva causada por déficit de p47-phox
title_full_unstemmed	Caracterización clínico - molecular de la enfermedad granulomatosa crónica autosómica recesiva causada por déficit de p47-phox
title_sort	caracterización clínico - molecular de la enfermedad granulomatosa crónica autosómica recesiva causada por déficit de p47-phox
publisher	Sociedad Médica de Santiago
publishDate	2000
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872000000500006
work_keys_str_mv	AT cornejodelmonica caracterizacionclinicomoleculardelaenfermedadgranulomatosacronicaautosomicarecesivacausadapordeficitdep47phox AT lopezqjuana caracterizacionclinicomoleculardelaenfermedadgranulomatosacronicaautosomicarecesivacausadapordeficitdep47phox AT navarrovsara caracterizacionclinicomoleculardelaenfermedadgranulomatosacronicaautosomicarecesivacausadapordeficitdep47phox AT garciadeodiana caracterizacionclinicomoleculardelaenfermedadgranulomatosacronicaautosomicarecesivacausadapordeficitdep47phox AT patinogpabloj caracterizacionclinicomoleculardelaenfermedadgranulomatosacronicaautosomicarecesivacausadapordeficitdep47phox
_version_	1718435917042024448

Caracterización clínico - molecular de la enfermedad granulomatosa crónica autosómica recesiva causada por déficit de p47-phox

Ejemplares similares