title: Homologous dinucleotide (GT or TG) deletion in Japanese patients with chronic granulomatous disease with p47-phox deficiency.
abstract: The cytosolic 47-kDa protein designated as p47-phox (phagocyte oxidase) is one of the essential components of the superoxide-generating system in phagocytes, and its defect is known to cause chronic granulomatous disease (CGD). Five unrelated CGD patients with p47-phox deficiency were found among 82 CGD patients in Japan. We sequenced the cDNAs and the genomic DNAs corresponding to p47-phox derived from these patients. In all cases examined, the defect was identified to be a GT (or TG) dinucleotide deletion at bases 75/76 (or 74/75, respectively) in the coding sequence for the protein. The same mutation was reported previously for a total of 9 alleles from 5 CGD patients in England and in the United States. It seems, therefore, that the dinucleotide GT deletion is the common mutation in 47-phox deficient CGD due to certain structural issues.
authors.affiliation: Department of Pediatrics, Kumamoto University Medical School, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Iwata
authors.forename: H
authors.initials: H
authors.lastname: Nunoi
authors.forename: H
authors.initials: H
authors.lastname: Yamazaki
authors.forename: T
authors.initials: T
authors.lastname: Nakano
authors.forename: H
authors.initials: H
authors.lastname: Niwa
authors.forename: S
authors.initials: S
authors.lastname: Tsuruta
authors.forename: S
authors.initials: S
authors.lastname: Ohga
authors.forename: S
authors.initials: S
authors.lastname: Ohmi
authors.forename: S
authors.initials: S
authors.lastname: Kanegasaki
authors.forename: I
authors.initials: I
authors.lastname: Matsuda
mesh_terms: D000293:Adolescent; D000328:Adult; D001402:B-Lymphocytes / Q000201:enzymology; D001483:Base Sequence; D002461:Cell Line, Transformed; D017931:DNA Primers; D005260:Female; D006105:Granulomatous Disease, Chronic / Q000201:enzymology* / Q000235:genetics*; D004854:Herpesvirus 4, Human / Q000235:genetics; D006801:Humans; D007564:Japan; D008297:Male; D008969:Molecular Sequence Data; D009252:NADPH Dehydrogenase / Q000172:deficiency* / Q000235:genetics*; D019255:NADPH Oxidases; D009841:Oligonucleotides; D010750:Phosphoproteins / Q000172:deficiency* / Q000235:genetics*; D016133:Polymerase Chain Reaction; D017384:Sequence Deletion
chemical_list: D017931:DNA Primers; D009841:Oligonucleotides; D010750:Phosphoproteins; D019255:NADPH Oxidases; C060505:neutrophil cytosolic factor 1; D009252:NADPH Dehydrogenase