Nature Genetics
5, 359 - 362 (1993)
doi:10.1038/ng1293-359
Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney diseaseD.J.M. Peters1, L. Spruit1, J.J. Saris1, D. Ravine2, L.A. Sandkuijl1, R. Fossdal3, J. Boersma1, R. van Eijk1, S. Nørby4, C.D. Constantinou-Deltas5, A. Pierides5, J.E. Briessenden6, R.R. Frants1, G.-J.B. van Ommen1
& M.H. Breuning1
1Department of Human Genetics, Leiden University, Sylvius Laboratories, Leiden 2333AL, The Netherlands
2The Murdoch Institute and the Royal Melbourne Hospital, Melbourne 3052, Australia
3The Bloodbank, Department of Medical Genetics, National University Hospital, Reykjavik IS-101, Iceland
4Institute of Forensic Genetics, University of Copenhagen, Copenhagen DK2100, Denmark
5The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
6The Wellesly Hospital, Toronto, Ontario L4B 3B6, Canada Correspondence should be addressed to D.J.M.P. 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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