Human Genetics

, Volume 94, Issue 4, pp 441–441 | Cite as

Two novel point mutations in the cytochrome b 558 heavy chain gene, detected in two Japanese patients with X-linked chronic granulomatous disease

  • Tadashi Ariga
  • Yukio Sakiyama
  • Shuzo Matsumoto
Short Communication

Abstract

Two novel point mutations in the gp91-phox gene of two Japanese with X-linked chronic granulomatous disease were identified by sequence analysis of polymerase chain reaction amplified DNA fragments

References

  1. Ariga T, Nakanishi M, Tomizawa K, Imajoh-Ohmi S, Kanegasaki S, Sakiyama Y, Matsumoto S (1992) Genetic heterogeneity in patients with X-linked chronic granulomatous disease. Pediatr Res 31:516–519Google Scholar
  2. Ariga T, Sakiyama Y, Tomizawa K, Imajoh-Ohmi S, Kanegasaki S, Matsumoto S (1993) A newly recognized point mutation in the cytochrome b558 heavy chain gene replacing alanine 57 by glutamic acid, in a patient with cytochrome b positive chronic granulomatous disease. Eur J Pediatr 152:469–472Google Scholar
  3. Curnutte JT (1993) Chronic granulomatous disease: the solving of a clinical ridlle at the molecular level. Clin Immunol Immunopathol 67:S2-S15Google Scholar
  4. Dinauer MC, Curnutte JT, Rosen H, Orkin H (1989) A missense mutation in the neutrophil cytochrome b heavy chain in cytochrome-positive X-linked chronic granulomatous disease. J Clin nvest 84:2012–2016Google Scholar
  5. Royer-Pokora B, Kunkel LM, Monaco AP, Goff SC, Newburger PE, Baehner RL, Cole FS, Curnutte JT, Orkin SH (1986) Cloning the gene for an inherited human disorder — chronic granulomatous disease — on the basis of its chromosomal location. Nature 322:32–38PubMedGoogle Scholar

Copyright information

© Springer-Verlag 1994

Authors and Affiliations

  • Tadashi Ariga
    • 1
  • Yukio Sakiyama
    • 1
  • Shuzo Matsumoto
    • 1
  1. 1.Department of PediatricsHokkaido University School of MedicineSapporoJapan

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