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

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

Autor Patino, P. J. Google Scholar
Perez, J. E. Google Scholar
Lopez, J. A. Google Scholar
Condino-Neto, A. Google Scholar
Grumach, A. S. Google Scholar
Botero, J. H. Google Scholar
Curnutte, J. T. Google Scholar
Olarte, D. G. de Google Scholar
Instituição Univ Antioquia
Universidade Estadual de Campinas (UNICAMP)
Universidade Federal de São Paulo (UNIFESP)
Genentech Inc
Resumo Chronic 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.
Palavra-chave neutrophils
chronic granulomatous disease
mutations in gp91-phox
SSCP-PCR
DNA sequencing
Idioma Inglês
Data de publicação 1999-01-01
Publicado em Human Mutation. New York: Wiley-liss, v. 13, n. 1, p. 29-37, 1999.
ISSN 1059-7794 (Sherpa/Romeo, fator de impacto)
Publicador Wiley-Blackwell
Extensão 29-37
Fonte http://dx.doi.org/10.1002/(SICI)1098-1004(1999)13:1<29
Direito de acesso Acesso restrito
Tipo Artigo
Web of Science WOS:000077700000003
Endereço permanente http://repositorio.unifesp.br/handle/11600/26001

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