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Title: Molecular analysis of chronic granulomatous disease caused by defects in gp91-phox
Authors: Patino, P. J.
Perez, J. E.
Lopez, J. A.
Condino-Neto, A.
Grumach, A. S.
Botero, J. H.
Curnutte, J. T.
Olarte, D. G. de
Univ Antioquia
Universidade Estadual de Campinas (UNICAMP)
Universidade Federal de São Paulo (UNIFESP)
Genentech Inc
Keywords: neutrophils
chronic granulomatous disease
mutations in gp91-phox
DNA sequencing
Issue Date: 1-Jan-1999
Publisher: Wiley-Blackwell
Citation: Human Mutation. New York: Wiley-liss, v. 13, n. 1, p. 29-37, 1999.
Abstract: 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.
ISSN: 1059-7794
Other Identifiers:<29
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