title: Similar proportion of sporadic cases in cytochrome b558 negative chronic granulomatous disease and Duchenne muscular dystrophy.
abstract: We studied 12 Japanese families of cytochrome b558 (b) negative chronic granulomatous disease (13 patients and 23 family members) and 15 controls for cytochrome b content, O2-, and H2O2 production. Cytochrome b content (nmol/10(8) cells), O2- production (nmol/10(7) cells/min), and percentage of H2O2 generating cells (%) were 1) 0.45-1.19, 64.1-174.2, and 85.8-100.0 in controls (mean +/- 2 S.D.), 2) 0.13-0.38, 22.6-50.9, and 20.0-62.4 in healthy carriers, and 3) undetectable, undetectable, and 0 in patients, respectively. These findings indicate that healthy carriers and normal homozygotes are separable by these three parameters, and that 4 of the 12 families studied represent fresh gene mutation. Pooling of data by Segal et al., Ohno et al., and ours yielded the overall incidence of a fresh gene mutation to be 19.4% (7 of 36 cases). The lower fresh mutation rate than predicted from Haldane's formula suggests a higher mutation rate in males than in females, as previously suggested in Duchenne muscular dystrophy.
authors.affiliation: Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Tanaka
authors.forename: N
authors.initials: N
authors.lastname: Matsuo
authors.forename: T
authors.initials: T
authors.lastname: Kuratsuji
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003573:Cytochrome b Group / Q000172:deficiency / Q000235:genetics*; D005260:Female; D006105:Granulomatous Disease, Chronic / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009136:Muscular Dystrophies / Q000201:enzymology / Q000235:genetics*; D009154:Mutation; D019255:NADPH Oxidases; D009504:Neutrophils / Q000201:enzymology; D013054:Spectrophotometry, Atomic
chemical_list: D003573:Cytochrome b Group; C036888:cytochrome b558; D019255:NADPH Oxidases