Skip to main content
SpringerLink
Log in

Spontane und chloramphenicolinduzierte Chromosomenmutationen und biochemische Befunde bei zwei Fällen mit Glutathionreduktasemangel (NAD(P)H: Glutathione oxidoreductase, E.C. 1.6.4.2.)

Spontaneous and chloramphenicoi-induced chromosome mutations and biochemical data in two cases with glutathione reductase deficiency (NAD(P)H: Glutathione oxidoreductase, E.C. 1.6.4.2)

  • Originalarbeiten
  • Published:
Humangenetik Aims and scope Submit manuscript

Summary

In one proband with pancytopenia and in his mother with normal blood picture the pattern of the erythrocyte enzymes revealed a glutathione reductase deficiency with a missing GR-II-band in the electropherogram. The incidence of spontaneous aberrations in the chromosomes of both individuals (52–58% and 7.2–8% metaphases with chromosomal damage) was significantly higher than in normal controls (0–3%). After 0.5 mg chloramphenicol per ml culture medium was applied 24 hours before fixation the number of damaged metaphases further increased to about 81% and 19–21%, respectively. Possible reasons for this phenomenon are discussed.

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

Access this article

Log in via an institution

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

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

Literatur

  1. Beutler, E., R. J. Dern, and A. S. Alving: The hemolytic effect of primaquine. J. Lab. clin. Med. 44, 167 (1954).

    Google Scholar 

  2. —, D. Duron, and B. M. Kelley: Improved method for the determination of blood glutathione. J. Lab. clin. Med. 61, 882 (1963).

    Google Scholar 

  3. Blume, K. G., M. Gottwik, G. W. Löhr u. H. W. Rüdiger: Familienuntersuchungen zum Glutathion-Reduktase-Mangel menschlicher Erythrocyten. Humangenetik 6, 163 (1968).

    Google Scholar 

  4. —, A. v. Lingen, G. W. Rüdiger u. G. G. Wendt: Beitrag zur Populationsgenetik der Glutathionreduktase menschlicher Erythrocyten. Humangenetik 6, 266 (1968).

    Google Scholar 

  5. —, H. W. Rüdiger, and G. W. Löhr: Electrophoresis of glutathione reductase from red blood cells. Biochim. biophys. Acta (Amst.) 151, 686 (1968).

    Google Scholar 

  6. Busch, D., u. K. Pelz: Erythrozytenisolierung aus Blut mit Baumwolle. Klin. Wschr. 44, 983 (1966).

    Google Scholar 

  7. Djordjevic, B., and W. Szybalski: Genetics of human cell lines. III. Incorporation of 5-bromo-and 5-iododeoxyuridine into deoxyribonucleic acid of human cells and its effect on radiation sensitivity. J. exp. Med. 112, 509 (1960).

    Google Scholar 

  8. Hampel, K. E.: Über die Wirkung von Zytostatika auf die Chromosomen des Menschen. Int. J. clin. Pharmacol. 1, 322 (1968).

    Google Scholar 

  9. Iwabuchi, M., T. Saho, and S. Tanifuji: Studies on the factors affecting the rejoining of chromosome breaks produced by X-rays. I. Effects of Mitomycin C, Chloramphenicol, adenosine triphosphate and nucleosides on the yield of X-ray induced chromosome aberrations. Jap. J. Genet. 41, 379 (1966).

    Google Scholar 

  10. Kosower, N. S., G. A. Vanderhoff, and I. M. London: The regeneration of reduced glutathione in normal and glucose-6-phosphate dehydrogenase deficient human red blood cells. Blood 29, 313 (1967).

    Google Scholar 

  11. Löhr, G. W., u. H. D. Waller: Eine neue enzymopenische hämolytische Anämie mit Glutathionreduktasemangel. Med. Klin. 57, 1521 (1962).

    Google Scholar 

  12. Moorhead, P. S., P. C. Nowell, W. J. Mellman, D. M. Battips, and D. A. Hungerford: Chromosome preparations of leukocytes cultured from human peripheral blood. Exp. Cell. Res. 20, 613 (1960).

    Google Scholar 

  13. Schroeder, T. M.: Cytogenetische und cytologische Befunde bei enzymopenischen Panmyelopathien und Pancytopenien. Familiäre Panmyelopathie Typ Fanconi, Glutathionreduktasemangel-Anämie und megaloblastäre Vitamin B12-Mangel-Anämie. Humangenetik 2, 287 (1966).

    Google Scholar 

  14. Talal, N., and E. D. Exum: Two classes of spleen ribosomes with different sensitivities to chloramphenicol. Proc. nat. Acad. Sci. (Wash.) 55, 1288 (1966).

    Google Scholar 

  15. Vogel, F., and M. Vrba: Influence of chloramphenicol on the reunion frequency of cytoxan-induced chromosome breaks in HeLa cells. Mutat. Res. 4, 874 (1967).

    Google Scholar 

  16. Waller, H. D., H. C. Benöhr u. P. Waumans: Zur Entstehung der medikamenteninduzierten Anämie bei Glutathionreduktase-Mangelträgern. Klin. Wschr. 47, 25 (1969).

    Google Scholar 

  17. —, G. W. Löhr, E. Zysno, W. Gerok, D. Voss u. G. Strauss: Glutathion-Reduktase-Mangel mit haematologischen und neurologischen Störungen. Klin. Wschr. 43, 413 (1965).

    Google Scholar 

  18. Weisberger, A. S., S. Wolfe, and S. Armentrout: Inhibition of protein synthesis in mammalian cell-free systems by chloramphenicol. J. exp. Med. 120, 161 (1964).

    Google Scholar 

  19. Wolff, S.: Mechanisms of dose-rate effects: Insights obtained from intensity and fractionation studies on chromosome aberration induction. Jap. J. Genet. 40, 38 (1965).

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. I. Medizinische Klinik der Freien Universität Berlin, Berlin, Deutschland

    K. E. Hampel

  2. Medizinische Klinik der Universität Freiburg, Freiburg, Deutschland

    G. W. Löhr, K. G. Blume & H. W. Rüdiger

Authors
  1. K. E. Hampel
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. G. W. Löhr
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. K. G. Blume
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. H. W. Rüdiger
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Hampel, K.E., Löhr, G.W., Blume, K.G. et al. Spontane und chloramphenicolinduzierte Chromosomenmutationen und biochemische Befunde bei zwei Fällen mit Glutathionreduktasemangel (NAD(P)H: Glutathione oxidoreductase, E.C. 1.6.4.2.). Hum Genet 7, 305–313 (1969). https://doi.org/10.1007/BF00283552

Download citation

  • Received:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00283552

Search

Navigation