Molecular analysis of chronic granulomatous disease caused by defects in gp91-phox

dc.creatorPatino, PJ
dc.creatorPerez, JE
dc.creatorLopez, JA
dc.creatorCondino-Neto, A
dc.creatorGrumach, AS
dc.creatorBotero, JH
dc.creatorCurnutte, JT
dc.creatorde Olarte, DG
dc.date1999
dc.date2014-12-02T16:29:27Z
dc.date2015-11-26T16:39:25Z
dc.date2014-12-02T16:29:27Z
dc.date2015-11-26T16:39:25Z
dc.date.accessioned2018-03-28T23:23:01Z
dc.date.available2018-03-28T23:23:01Z
dc.identifierHuman Mutation. Wiley-liss, v. 13, n. 1, n. 29, n. 37, 1999.
dc.identifier1059-7794
dc.identifierWOS:000077700000003
dc.identifier10.1002/(SICI)1098-1004(1999)13:1<29
dc.identifierhttp://www.repositorio.unicamp.br/jspui/handle/REPOSIP/57713
dc.identifierhttp://www.repositorio.unicamp.br/handle/REPOSIP/57713
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/57713
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1272467
dc.descriptionChronic granulomatous disease (CGD) is an uncommon inherited disorder of phagocytic cells in which a defective respiratory burst leads to severe recurrent bacterial and fungal infections. The disease is a consequence of mutations in one of the four molecules that constitute the NADPH oxidase system of electron transport, whose most critical component is an unusual flavocytochrome b localized in the plasma and specific granule membranes. Mutations in the CYBB gene (localized in the short arm of the X chromosome) encoding the beta-subunit of this flavocytochrome (gp91-phox), which is are responsible for 60-65% of all cases of CGD. In this paper, we report the molecular characterization of seven unrelated kindreds native from Colombia and Brazil with CGD caused by gp91-phox deficiency. The exons with the possible mutation were identified by single-strand conformational polymorphism (SSCP) of genomic DNA and then confirmed by DNA sequencing. In one patient we found a substitution of A to G in the penultimate nucleotide of intron 12 (IVS12-2A-->G). In four other cases, four different nonsense mutations were detected: R91X, W106X, R157X, and R290X and the other two patients showed missense substitutions: E225V and C244Y. In six of these kindreds, all mothers were carriers but one that did not present any change in the gp91-phox gene, which indicates a de novo mutation in this kindred. Then, these family-specific mutations in gp91-phox produce different structural defects that alter the expression or function of an essential component of phagocyte oxidase, Hum Mutat 13:29-37, 1999. (C) 1999 Wiley-Liss, Inc.
dc.description13
dc.description1
dc.description29
dc.description37
dc.languageen
dc.publisherWiley-liss
dc.publisherNew York
dc.publisherEUA
dc.relationHuman Mutation
dc.relationHum. Mutat.
dc.rightsfechado
dc.rightshttp://olabout.wiley.com/WileyCDA/Section/id-406071.html
dc.sourceWeb of Science
dc.subjectneutrophils
dc.subjectchronic granulomatous disease
dc.subjectmutations in gp91-phox
dc.subjectSSCP-PCR
dc.subjectDNA sequencing
dc.subjectRespiratory Burst Oxidase
dc.subjectNeutrophil Cytochrome-b
dc.subjectPolymorphism Analysis
dc.subjectPoint Mutations
dc.subjectLight Chain
dc.subjectGene
dc.subjectActivation
dc.subjectExpression
dc.subjectSequences
dc.subjectPromoter
dc.titleMolecular analysis of chronic granulomatous disease caused by defects in gp91-phox
dc.typeArtículos de revistas


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