Homologous dinucleotide (GT or TG) deletion in Japanese patients with chronic granulomatous disease with p47-phox deficiency

Mayumi Iwata, Hiroyuki Nunoi, Hajime Yamazaki, Takashi Nakano, Hisao Niwa, Satoru Tsuruta, Shouichi Ohga, Shinobu Ohmi, Shiro Kanegasaki, Ichiro Matsuda

Research output: Contribution to journalArticle

32 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)1372-1377
Number of pages6
JournalBiochemical and Biophysical Research Communications
Volume199
Issue number3
DOIs
Publication statusPublished - Mar 30 1994

All Science Journal Classification (ASJC) codes

  • Biophysics
  • Biochemistry
  • Molecular Biology
  • Cell Biology

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