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Genetic linkage between Von Hippel--Lindau disease and three microsatellite polymorphisms refines the localisation of the VHL locus |
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| Authors: | Crossey PA; Maher ER; Jones MH; Richards FM; Latif F; Phipps ME; Lush M; Foster K; Tory K; Green JS; Oostra B; Yates JRW; Linehan WM; Affara NA; Lerman M; Zbar B; Nakamura Y; Ferguson-Smith MA |
| Institution: | Cambridge University Department of Pathology Cambridge, UK 1Cancer Institute Tokyo, Japan 2Laboratory of Immunobiology, National Cancer Institute—Frederick Cancer Research Facility Frederick, MD, USA 3Division of Community Medicine, Memorial University of New Foundland Canada 4Erasmus University Rotterdam, The Netherlands 5Surgery Branch, National Cancer Institute USA |
| Abstract: | Von Hippel—Lindau (VHL) disease is a dominantly inheritedfamilial cancer syndrome characterised by the development ofretinal and central nervous system haemangioblastomas, renalcell carcinoma and phaeochromocytoma. The gene for VHL diseasehas been mapped to chromosome 3p25–p26 and presymtomaticdiagnosis using linked DNA markers is available. We have previouslymapped the VHL disease gene to a 4 cM interval between D3S1250and D3S18. To increase access to presymptomatic diagnosis andto accelerate progress towards isolating the VHL disease genewe attempted to identify microsatellite DNA markers linked tothe disease gene by genetic linkage analysis in 29 families.We found significant linkage between the VHL disease gene anddinucleotide (CA) repeat polymorphisms at D3S1038 (Zmax = 22.24at |
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