title: Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease.
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.
authors.affiliation: Department of Human Genetics, Leiden University, Sylvius Laboratories, The Netherlands.
authors.forename: D J
authors.initials: DJ
authors.lastname: Peters
authors.forename: L
authors.initials: L
authors.lastname: Spruit
authors.forename: J J
authors.initials: JJ
authors.lastname: Saris
authors.forename: D
authors.initials: D
authors.lastname: Ravine
authors.forename: L A
authors.initials: LA
authors.lastname: Sandkuijl
authors.forename: R
authors.initials: R
authors.lastname: Fossdal
authors.forename: J
authors.initials: J
authors.lastname: Boersma
authors.forename: R
authors.initials: R
authors.lastname: van Eijk
authors.forename: S
authors.initials: S
authors.lastname: Nørby
authors.forename: C D
authors.initials: CD
authors.lastname: Constantinou-Deltas
mesh_terms: D000328:Adult; D002894:Chromosomes, Human, Pair 4; D004274:DNA, Recombinant; D005190:Family; D005260:Female; D008040:Genetic Linkage; D006239:Haplotypes; D006801:Humans; D008297:Male; D010375:Pedigree; D016891:Polycystic Kidney, Autosomal Dominant / Q000235:genetics*
chemical_list: D004274:DNA, Recombinant