Skip to main content
Log in

A novel polymorphism in the coding region of CYBB, the human gp91-phox gene

  • Original Investigation
  • Published:
Human Genetics Aims and scope Submit manuscript

Abstract

We have identified a rare polymorphism (G to C at nucleotide 1102) in CYBB, which codes for gp91-phox, a component of NADPH oxidase. Polymorphonuclear leukocytes with this enzyme produced normal amounts of superoxide anion.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Similar content being viewed by others

References

  • Clark RA, Volpp BD, Leidal KG, Nauseef WM (1990) Two cytosolic components of the human neutrophil respiratory burst oxidase translocate to the plasma membrane during cell activation. J Clin Invest 85:714–721

    Google Scholar 

  • De Boer M, Bolscher BGJM, Symons RH, Scheffer H, Weening RS, Roos D (1992) Prenatal diagnosis in a family with X-linked chronic granulomatous disease with the use of the polymerase chain reaction. Prenat Diagn 12:773–777

    Google Scholar 

  • Forrest CB, Forehand JR, Axtell RA, Roberts RL, Johnston RB (1988) Clinical features and current management of chronic granulornatous disease. Hematol Oncol Clin North Am 2:253–267

    Google Scholar 

  • Leusen JHW, De Boer M, Bolscher BGJM, Hilarius PM, Weening RS, Ochs HD, Roos D, Verhoeven JA (1994) A point mutation in gp91-phox of cytochromeb 558 of the human NADPH oxidase leading to defective translocation of the cytosolic proteins p47-phox and p67-phox. J Clin Invest 93:2120–2126

    Google Scholar 

  • Roos D (1994) The genetic basis of chronic granulomatous disease. Immunol Rev 138:121–157

    Google Scholar 

  • Roos D, De Boer M, Borregard N, Bjerrum OW, Valerius NH, Seger RH, Mühlebach T, Belohradsky BH, Weening RS (1992) Chronic granulomatous disease with partial deficiency of cytochromeb 558 and incomplete respiratory burst: variants of the X-linked, cytochromeb 558-negative form of the disease. J Leukoc Biol 51:164–171

    Google Scholar 

  • Sambrook J, Fritsch EF, Maniatis T (1989) Molecular cloning: a laboratory manual, 2nd edn. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY

    Google Scholar 

  • Segal AW (1987) Absence of both cytochromeb 245 subunits from neutrophils in X-linked chronic granulomatous disease. Nature 326:88–91

    Google Scholar 

  • Thrasher AJ, Keep NH, Wientjes F, Segal AW (1994) Chronic granulomatous disease. Biochim Biophys Acta 1227:1–24

    Google Scholar 

  • Verhoeven AJ, Bolscher BGJM, Meerhof LJ, Van Zwieten R, Keijer J, Weening RS, Roos D (1989) Characterization of two monoclonal antibodies against cytochromeb 558 of human neutrophils. Blood 73:1686–1694

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

About this article

Cite this article

Kuribayashi, F., de Boer, M., Leusen, J.H.W. et al. A novel polymorphism in the coding region of CYBB, the human gp91-phox gene. Hum Genet 97, 611–613 (1996). https://doi.org/10.1007/BF02281870

Download citation

  • Received:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF02281870

Keywords

Navigation