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Mutations for the autosomal recessive and autosomal dominant forms of polycystic kidney disease are not allelic |
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| Authors: | Michèle Ramsay Stephen T Reeders Peter D Thomson Lawrence S Milner L Lazarou Thomas M Barratt Adrian Yau Ordan J Lehmann Trefor Jenkins |
| Institution: | (1) MRC Human Ecogenetics Research Unit, Department of Human Genetics, School of Pathology, South African Institute for Medical Research and University of Medicine, P.O. Box 1038, Johannesburg, South Africa;(2) Nuffield Department of Medicine, John Radeliffe Hospital, Oxford, UK;(3) Department of Paediatrics and Child Health, Johannesburg Hospital, Johannesburg, South Africa;(4) Section of Medical Genetics, University Hospital of Wales, Heath Park, Cardiff, UK;(5) Institute of Child Health, University of London, 30 Guilford Street, London, UK |
| Abstract: | Summary The autosomal dominant form of polycystic kidney disease (ADPKD) has been linked to the  -globin gene locus on 16p. Linkage studies between the autosomal recessive type (ARPKD) and the 3 HVR of the -globin gene cluster showed that the ARPKD and ADPKD are not allelic. |
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