Similar proportion of sporadic cases in cytochrome b558 negative chronic granulomatous disease and Duchenne muscular dystrophy.
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.
Tanaka
Y
Y
Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
Matsuo
N
N
Kuratsuji
T
T
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
D003573:Cytochrome b Group; C036888:cytochrome b558; D019255:NADPH Oxidases