Homologous dinucleotide (GT or TG) deletion in Japanese patients with chronic granulomatous disease with p47-phox deficiency.
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.
Iwata
M
M
Department of Pediatrics, Kumamoto University Medical School, Japan.
Nunoi
H
H
Yamazaki
H
H
Nakano
T
T
Niwa
H
H
Tsuruta
S
S
Ohga
S
S
Ohmi
S
S
Kanegasaki
S
S
Matsuda
I
I
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
D017931:DNA Primers; D009841:Oligonucleotides; D010750:Phosphoproteins; D019255:NADPH Oxidases; C060505:neutrophil cytosolic factor 1; D009252:NADPH Dehydrogenase