Human Genetics

, Volume 54, Issue 2, pp 177–182 | Cite as

Differences in the levels of UV repair and in clinical symptoms in two sibs affected by xeroderma pigmentosum

  • Miria Stefanini
  • Wilma Keijzer
  • Leda Dalprà
  • Raffaella Elli
  • Marcella Nazzaro Porro
  • B. Nicoletti
  • Fiorella Nuzzo
Original Investigations
Received:

Summary

UV-repair activity was studied in two sibs affected by XP showing different clinical symptoms. Complementation studies indicated that both patients fit into complementation group A. The levels of UV-induced 3H-thymidine incorporation, in fibroblasts and in lymphocytes, are different in the two patients: residual level of repair DNA synthesis in the sister is higher than in the brother. In one of the cell samples analyzed UDS analysis showed that in the sister a low proportion of cells with normal repair synthesis is present.

Keywords

Internal Medicine Clinical Symptom Metabolic Disease Cell Sample Complementation Study 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
This is a preview of subscription content, log in to check access.

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Akiba, H., Kato, T., Nakano, H., Seiji M.: Defective DNA repair replication in xeroderma pigmentosum fibroblasts and DNA repair of somatic cell hybrids after UV-irratiation. Tohoku J. Exp. Med. 117, 1–13 (1975)Google Scholar
  2. Andrews, A. D., Barrett, S. F., Robbins, J. H.: Relation of DNA repair processes to pathological ageing of the nervous system in xeroderma pigmentosum. Lancet I, 1318–1320 (1976)Google Scholar
  3. Andrews, A. D., Barrett, S. F., Robbins, J. H.: XP neurological abnormalities correlate with colony forming ability after ultraviolet radiation. Proc. Natl. Acad. Sci. USA 75, 1984–1988 (1978)Google Scholar
  4. Bootsma, D.: Xeroderma pigmentosum in Proc. ICN/UCLA Conference on Molecular and Cellular Biology (Keystone). In: DNA Repair Mechanisms (P. C. Hanawalt, E. C. Friedberg, C. F. Fox, eds.), pp. 589–601. 1978Google Scholar
  5. Bootsma, D., Mulder, M. P., Pot, F., Cohen, J. A.: Different inherited levels of DNA repair replication in xeroderma pigmentosum cell strains after exposure to ultraviolet irratiation. Mutat. Res. 9, 507–516 (1970)Google Scholar
  6. Cleaver, J. E., Bootsma D.: Xeroderma pigmentosum: Biochemical and genetic characteristics. Ann. Rev. Genet. 9, 19–38 (1975)Google Scholar
  7. Dalprà, L., Stefanini, M., Dagna-Bricarelli, F., Falaschi, A., Nuzzo-De Carli, F.: DNA repair after UV-irradiation in human lymphocytes. Atti Ass. Genet. It. 20, 193–194 (1975)Google Scholar
  8. Dalprà, L., Stefanini, M., Giulotto, E., Falaschi, A., Nuzzo, F.: Variations of DNA repair synthesis after UV irradiation in PHA stimulated lymphocytes. Haematologica 64, 31–39 (1979)Google Scholar
  9. Kleijer, W. J., Weerd-Kastelein, E. A. de, Sluyter, L. M., Keijzer, W., Wit, J. de, Bootsma, D.: UV-induced DNA repair synthesis in cells of patients with different forms of xeroderma pigmentosum and of heterozygotes. Mutat. Res. 20, 417–428 (1973)Google Scholar
  10. Kraemer, K. H., Coon, H. G., Petinga, R. A., Barrett, S. F., Rahe, A. E., Robbins, J. H.: Genetic heterogeneity in xeroderma pigmentosum: complementation groups and their relationship to DNA repair rates. Proc. Natl. Acad. Sci. USA 72, 59–63 (1975)Google Scholar
  11. Lambert, B., Hansson, K., Bui, T. H., Funes-Cravioto, F., Lindsten, J., Holmberg, M., Strausmanis, R.: DNA repair and frequency of X-ray and UV-light induced chromosome aberrations in leukocytes from patients with Down's syndrome. Ann. Hum. Genet. (Lond.) 39, 293–303 (1976)Google Scholar
  12. Robbins, J. H., Kraemer, K. H., Lutzner, M. A., Festoff, B. W., Coon, H. G.: Xeroderma Pigmentosum: an inherited disease with sun sensitivity, multiple cutaneous neoplasms and abnormal DNA repair. Ann. Intern. Med. 80, 221–248 (1974)Google Scholar
  13. Stefanini, M., Dalprà, L., Zei, G., Giorgi, R., Falaschi, A., Nuzzo, F.: Incorporation of 3H-thymidine stimulated by ultraviolet radiation into human fibroblast cultures. Mutat. Res. 34, 313–326 (1976)Google Scholar
  14. Weerd-Kastelein, E. A. de, Keijzer, W., Bootsma, D.: Genetic heterogeneity of xeroderma pigmentosum demonstrated by somatic cell hybridization. Nature New Biol. 238, 80–83 (1972)Google Scholar
  15. Weerd-Kastelein, E. A. de, Keijzer, W., Bootsma, D.: A third complementation group in xeroderma pigmentosum. Mutat. Res. 22, 87–91 (1974)Google Scholar
  16. Weerd-Kastelein, E. A. de, Keijzer, W., Sabour, M., Parrington, J. M., Bootsma, D.: A xeroderma pigmentosum patient having a high residual activity of unscheduled DNA synthesis after UV is assigned to complementation group A. Mutat. Res. 37, 307–312 (1976)Google Scholar

Copyright information

© Springer-Verlag 1980

Authors and Affiliations

  • Miria Stefanini
    • 1
  • Wilma Keijzer
    • 2
  • Leda Dalprà
    • 3
  • Raffaella Elli
    • 4
  • Marcella Nazzaro Porro
    • 5
  • B. Nicoletti
    • 4
  • Fiorella Nuzzo
    • 1
  1. 1.Laboratorio di Genetica Biochimica ed Evoluzionistica del CNRPaviaItaly
  2. 2.Department of Cell Biology and GeneticsErasmus UniversityRotterdamThe Netherlands
  3. 3.Istituto di BiologiaUniversità di MilanoI-MilanoItaly
  4. 4.Istituto di Biologia Generale IUniversità di RomaI-RomaItaly
  5. 5.Ospedale Dermatologico “S.Gallicano”I-RomaItaly

Personalised recommendations