Skip to main content
SpringerLink
Log in

Demonstration of heterogeneity in xeroderma pigmentosum

  • Original Contributions
  • Published:
Archives of Dermatological Research Aims and scope Submit manuscript

Summary

Two cases of xeroderma pigmentosum were studied at the cytogenetic and molecular level. DNA repair impairment was revealed in case 1 by a nucleoid sedimentation technique whereas a half diminished rate of DNA repair could be demonstrated in case 2. This may be a further case of a xeroderma pigmentosum variant.

Zusammenfassung

Zwei Patienten mit Xeroderma pigmentosum wurden cytogenetisch und auf molekularer Ebene untersucht.

Eine Beeinträchtigung der DNA-Reparatur wurde beim ersten Patienten durch eine Nukleoid-Sedimentationstechnik nachgewiesen, während der zweite Patient gegenüber den gesunden Kontrollpersonen nur auf die Hälfte verminderte DNA-Reparaturdefizienz aufweist. Wir nehmen an, daß es sich bei diesem Patienten um einen weiteren Fall einer Xeroderma pigmentosum-Variante handelt.

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

References

  • Cleaver JE (1968) Defective repair replication in xeroderma pigmentosum. Nature 218:652–656

    PubMed  Google Scholar 

  • Cleaver JE (1972) Xeroderma pigmentosum: variants with normal DNA repair and normal sensitivity to ultraviolet light. L Invest Dermatol 58:124–127

    Article  Google Scholar 

  • Cleaver JE (1978) Xeroderma pigmentosum: genetic and environmental influences in skin carcinogenesis. Int J Dermatol 17:435–444

    PubMed  Google Scholar 

  • Cook PR, Brazell IA (1976) Detection and repair of single-strand breaks in nuclear DNA. Nature 263:679–682

    PubMed  Google Scholar 

  • Jung EG (1970) New form of molecular defect in xeroderma pigmentosum. Nature 228:361–362

    PubMed  Google Scholar 

  • Jung EG (1971) Das pigmentierte Xerodermoid-ein Defekt der Rekombinations-Erholung von UV-Schäden. Arch Dermatol Forsch 241:33–43

    PubMed  Google Scholar 

  • Jung EG (1973) Bedeutung und Heterogenität des Syndroms Xeroderma pigmentosum. Hautarzt 24:175–179

    PubMed  Google Scholar 

  • Jung EG, Schnyder UW (1970) Xeroderma pigmentosum und pigmentiertes Xerodermoid-klinische und molekularbiologische Untersuchungen. Schweiz Med Wochenschr 100:1718–1726

    PubMed  Google Scholar 

  • Kim My A (1974) Chromatidaustausch und Heterochromatinveränderungen menschlicher Chromosomen nach BUdR-Markierung. Nachweis mit Benzimidazolfluorochrom und Giemsafarbstoff. Humangenetik 25:179–188

    PubMed  Google Scholar 

  • Kim My A, Lenz W, Maaser R (1976, 1977) Chromosomenuntersuchungen beim Cockayne-Syndrom. Arch Genet 49/50:127–133

    Google Scholar 

  • Kim My A (1979) Strukturanalyse menschlicher Chromosomen unter besonderer Berücksichtigung der Bänderungs-, Bruch-und Replikationsmechanismen-molekularcytogenetische Untersuchung, Bd II. Westdeutscher Verlag, Opladen

    Google Scholar 

  • Kraemer KH, De Weerd-Kastelein EA, Robbins JH, Keijzer W, Barett SF, Petinga RA, Bootsma D (1975) Five complementation groups in xeroderma pigmentosum. Mutat Res 33:327–340

    PubMed  Google Scholar 

  • Lehman AR, Kirk-Bell S, Arlett CF, Paterson MC, Lohman PHM, De Weerd-Kastelein EA, Bootsma D (1975) Xeroderma pigmentosum cells with normal levels of excision repair have a defect in DNA synthesis after UV-irradiation. Proc Nat Acad Sci USA 72:219–223

    PubMed  Google Scholar 

  • Reed WB, Sugarman GI, Mathis RA (1977) De Sanctis-Cacchione syndrome — a case report with autopsy findings. Arch Dermatol 113:1561–1563

    Article  PubMed  Google Scholar 

  • Robbins JH, Levis WR, Miller AE (1972) Xeroderma pigmentosum epidermal cells with normal UV-induced thymidine incorporation. J Invest Dermatol 59:402–408

    Article  PubMed  Google Scholar 

  • Schönwald AD, Passarge E (1977) UV-light-induced sister chromatid exchanges in xeroderma pigmentosum lymphocytes. Hum Genet 36:213–218

    PubMed  Google Scholar 

  • Sutherland BM, Rice M, Wagner EK (1975) Xeroderma pigmentosum cells contain low levels of photoreactivating enzyme. Proc Nat Acad Sci USA 72:103–107

    PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Human Genetics, University of Münster, Vesaliusweg 12-14, D-4400, Münster, Germany

    My. A. Kim

  2. Department of Dermatology, University of Münster, von Esmarch-Straße 56, D-4400, Münster, Germany

    Heiko Traupe

Authors
  1. My. A. Kim
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Heiko Traupe
    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

Kim, M.A., Traupe, H. Demonstration of heterogeneity in xeroderma pigmentosum. Arch Dermatol Res 269, 81–85 (1980). https://doi.org/10.1007/BF00404461

Download citation

  • Received:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00404461

Key words

Schlüsselwörter

Search

Navigation