Family studies in scleroderma (systemic sclerosis) demonstrating an HLA-linked increased chromosomal breakage rate in cultured lymphocytes (original) (raw)
Summary
An increased chromosomal breakage rate (ICBR) was found in 27 of 28 patients with scleroderma (systemic sclerosis, SS)-5 with the syndrome including calcinosis cutis, Raynaud phenomenon, esophagus hypomotility, sclerodactyly and telangiectasia (CREST), 4 incomplete CREST, 1 overlapping syndrome, 18 progressive systemic sclerosis (PSS). Not only the patients, but also about half of their first-degree relatives showed an increased chromosomal breakage rate (more than 5 breaks per 100 metaphases). This character segregated as a dominant marker in nine families of scleroderma patients. In the six informative of the nine families, the ICBR trait showed close linkage with the HLA region on chromosome 6 (total lod score 5.5 at θ=0). In these families, ICBR was predominantly observed in linkage with HLA haplotype A1, Cw7, B8, C4AQ0B1, DR3 which is frequently observed in autoimmune diseases. The nature of the agent inducing chromosomal breakage in cultured lymphocytes of some, but not all family members of scleroderma patients remains to be clarified.
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Authors and Affiliations
- Institut für Humangenetik der Universität, Wilhelmstrasse 31, D-5300, Bonn 1, Federal Republic of Germany
Gabriele Rittner & Gesa Schwanitz - Institut für Medizinische Statistik, Dokumentation und Datenverarbeitung der Universität, D-5300, Bonn-Venusberg, Federal Republic of Germany
Max P. Baur - Department of Rheumatology, West Middlesex Hospital, TW7 64F, Isleworth, UK
Carol M. Black - Tissue Typing Laboratory, Guy's Hospital, SE1 9RT, London, UK
Ken I. Welsh - Abteilung für Transfusionsmedizin, Chirurgische Universitätsklinik, D-2000, Hamburg 20, Federal Republic of Germany
Peter Kühnl - Institut für Rechtsmedizin der Universität, Am Pulverturm 3, D-6500, Mainz, Federal Republic of Germany
Christian Rittner
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Rittner, G., Schwanitz, G., Baur, M.P. et al. Family studies in scleroderma (systemic sclerosis) demonstrating an HLA-linked increased chromosomal breakage rate in cultured lymphocytes.Hum Genet 81, 64–70 (1988). https://doi.org/10.1007/BF00283732
- Received: 17 December 1987
- Revised: 11 July 1988
- Issue Date: December 1988
- DOI: https://doi.org/10.1007/BF00283732