European Journal of Pediatrics

, Volume 152, Issue 6, pp 469–472

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
Hematology/Oncology

DOI: 10.1007/BF01955051

Cite this article as:
Ariga, T., Sakiyama, Y., Tomizawa, K. et al. Eur J Pediatr (1993) 152: 469. doi:10.1007/BF01955051

Abstract

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 diseaseMutant cytochrome b heavy chainPoint mutationMolecular genetic analysis

Abbreviations

CGD

chronic granulomatous disease

CYBB

cytochrome b heavy chain gene

EBV

Epstein-Barr virus

phox

phagocytic oxidase

gp91-phox

91-kD glycoprotein

p22-phox

22-kD polypepetide

p47-phox

47-kD cytoplasmic oxidase component

p67-phox

67-kD cytoplasmic oxidase component

PCR

polymerase chain reaction

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