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.

引用

页码：1372 / 1377

页数：6

共 26 条

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