Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease.
Peters DJ,
Spruit L,
Saris JJ,
Ravine D,
Sandkuijl LA,
Fossdal R,
Boersma J,
van Eijk R,
Nørby S,
Constantinou-Deltas CD, et al.
Department of Human Genetics, Leiden University, Sylvius Laboratories, The Netherlands.
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.
PMID: 8298643 [PubMed - indexed for MEDLINE]