Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease
- 1 December 1993
- journal article
- research article
- Published by Springer Nature in Nature Genetics
- Vol. 5 (4) , 359-362
- https://doi.org/10.1038/ng1293-359
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.Keywords
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