Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease

D. J.M. Peters*, L. Spruit, J. J. Saris, D. Ravine, L. A. Sandkuijl, R. Fossdal, J. Boersma, R. van Eijk, S. Nørby, C. D. Constantinou-Deltas, A. Pierides, J. E. Briessenden, R. R. Frants, G. J.B. van Ommen, M. H. Breuning

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

258 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)359-362
Number of pages4
JournalNature Genetics
Volume5
Issue number4
DOIs
Publication statusPublished - Dec 1993

Fingerprint

Dive into the research topics of 'Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease'. Together they form a unique fingerprint.

Cite this