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Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease

Nature Genetics volume 5, pages 359–362 (1993)Cite this article

Abstract

Autosomal dominant polycystic kidney disease (ADPKD) is a genetically heterogeneous disorder. A gene defect located on the short arm of chromosome 16 is responsible for the disease in roughly 86% of affected European families. Using highly polymorphic microsatellite DNA markers, we have assigned a second gene for ADPKD to chromosome 4. In eight families with clear evidence against linkage to chromosome 16 markers, linkage analysis with the markers D4S231 and D4S423, demonstrated a multipoint lod score of 22.42.

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Author information

Authors and Affiliations

  1. Department of Human Genetics, Leiden University, Sylvius Laboratories, Leiden, 2333AL, The Netherlands

    D.J.M. Peters, L. Spruit, J.J. Saris, L.A. Sandkuijl, J. Boersma, R. van Eijk, R.R. Frants, G.-J.B. van Ommen & M.H. Breuning

  2. The Murdoch Institute and the Royal Melbourne Hospital, Melbourne, 3052, Australia

    D. Ravine

  3. The Bloodbank, Department of Medical Genetics, National University Hospital, Reykjavik, IS-101, Iceland

    R. Fossdal

  4. Institute of Forensic Genetics, University of Copenhagen, Copenhagen, DK2100, Denmark

    S. Nørby

  5. The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus

    C.D. Constantinou-Deltas & A. Pierides

  6. The Wellesly Hospital, Toronto, Ontario, L4B 3B6, Canada

    J.E. Briessenden

Authors
  1. D.J.M. Peters
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  2. L. Spruit
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  6. R. Fossdal
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  7. J. Boersma
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  8. R. van Eijk
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  9. S. Nørby
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  14. G.-J.B. van Ommen
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  15. M.H. Breuning
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Peters, D., Spruit, L., Saris, J. et al. Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease. Nat Genet 5, 359–362 (1993). https://doi.org/10.1038/ng1293-359

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