HOMOLOGOUS DINUCLEOTIDE (GT OR TG) DELETION IN JAPANESE PATIENTS WITH CHRONIC GRANULOMATOUS-DISEASE WITH P47-PHOX DEFICIENCY

被引：31
|
作者：
IWATA, M
NUNOI, H
YAMAZAKI, H
NAKANO, T
NIWA, H
TSURUTA, S
OHGA, S
OHMI, S
KANEGASAKI, S
MATSUDA, I
机构：
[1] KUMAMOTO UNIV,SCH MED,DEPT PEDIAT,KUMAMOTO 860,JAPAN
[2] UNIV TOKYO,INST MED SCI,MINATO KU,TOKYO 108,JAPAN
[3] NIIGATA UNIV,SCH MED,NIIGATA 951,JAPAN
[4] MIE UNIV,SCH MED,TSU,MIE 514,JAPAN
[5] IZUMI SANO CITY HOSP,OSAKA 598,JAPAN
[6] SHIZUOKA CHILDRENS HOSP,SHIZUOKA 420,JAPAN
[7] KYUSHU UNIV,SCH MED,FUKUOKA 812,JAPAN
来源：
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS | 1994年 / 199卷 / 03期
关键词：
D O I：
10.1006/bbrc.1994.1382
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
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. (C) 1994 Academic Press, Inc.
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收藏
页码：1372 / 1377
页数：6
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