Genetic analysis of 13 families with X-linked chronic granulomatous disease reveals a low proportion of sporadic patients and a high proportion of sporadic carriers.
X-linked chronic granulomatous disease (X-CGD) is the most common type of CGD, whose responsible gene has been identified and termed as CYBB, according to the gp91-phox, a subunit of cytochrome b558. Although approximately 200 different mutations of the gp91-phox gene have been reported, no precise study of the proportion of sporadic cases in X-CGD, based on molecular genetic analysis, has been reported. We made a genetic analysis of six newly identified X-CGD patients together with that of eight previously reported X-CGD patients. The mutations newly detected were three missense mutations, two splice mutations, and one insertion of 2 bases. All of the mutations were novel. Twelve mothers (two of them came from the same family) and four maternal grandmothers from 13 different X-CGD families were available for further genetic studies. It was revealed that a proportion of sporadic patients was low and that of sporadic carriers was high. These results suggest that the mutation for the disease originates mainly from male gametes.
Ariga
T
T
Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan.
Furuta
H
H
Cho
K
K
Sakiyama
Y
Y
D017398:Alternative Splicing; D000595:Amino Acid Sequence; D001483:Base Sequence; D017931:DNA Primers; D004251:DNA Transposable Elements; D005091:Exons; D005190:Family; D005260:Female; D006580:Genetic Carrier Screening; D018392:Genomic Imprinting; D006105:Granulomatous Disease, Chronic / Q000235:genetics*; D006801:Humans; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D009154:Mutation; D000074662:NADPH Oxidase 2; D019255:NADPH Oxidases; D017354:Point Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D014960:X Chromosome
D017931:DNA Primers; D004251:DNA Transposable Elements; D008562:Membrane Glycoproteins; C056558:CYBB protein, human; D000074662:NADPH Oxidase 2; D019255:NADPH Oxidases