European Journal of Pediatrics

, Volume 152, Issue 6, pp 469–472 | Cite as

A newly recognized point mutation in the cytochrome b558 heavy chain gene replacing alanine57 by glutamic acid, in a patient with cytochrome b positive X-linked chronic granulomatous disease

  • T. Ariga
  • Y. Sakiyama
  • K. Tomizawa
  • S. Imajoh-Ohmi
  • S. Kanegasaki
  • S. Matsumoto


Molecular genetic analysis was performed in a patient with cytochrome b positive X-linked chronic granulomatous disease. A previous Southern blot study, using a cytochrome b heavy chain cDNA as probe, revealed a Pst I restriction fragment pattern for the cytochrome b heavy chain gene (CYBB) different to that of normal individuals. Since restriction length polymorphism with Pst I has never been observed in control individuals and no abnormal restriction fragment patterns in the patient's CYBB was detected with seven other enzymes used, we focussed on the single Pst I site in the CYBB cDNA as being the only mutation site responsible for his disease. A fragment of the patient's cDNA which included the Pst I site was amplified by reverse polymerase chain reaction, and loss of the Pst I site in the fragment was confirmed by incubation with Pst I. Subsequent sequence analysis of the fragment revealed a point mutation in the Pst I site (cytosine to adenine), substituting glutamic acid for alanine at position 57.

Key words

X-linked chronic granulomatous disease Mutant cytochrome b heavy chain Point mutation Molecular genetic analysis 



chronic granulomatous disease


cytochrome b heavy chain gene


Epstein-Barr virus


phagocytic oxidase


91-kD glycoprotein


22-kD polypepetide


47-kD cytoplasmic oxidase component


67-kD cytoplasmic oxidase component


polymerase chain reaction


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Copyright information

© Springer-Verlag 1993

Authors and Affiliations

  • T. Ariga
    • 1
  • Y. Sakiyama
    • 1
  • K. Tomizawa
    • 1
  • S. Imajoh-Ohmi
    • 2
  • S. Kanegasaki
    • 2
  • S. Matsumoto
    • 1
  1. 1.Department of PaediatricsHokkaido University School of MedicineSapporoJapan
  2. 2.Institute of Medical ScienceUniversity of TokyoTokyoJapan

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