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

Nat Genet. 1993 Dec;5(4):359-62. doi: 10.1038/ng1293-359.


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.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Chromosomes, Human, Pair 4*
  • DNA, Recombinant
  • Family
  • Female
  • Genetic Linkage
  • Haplotypes
  • Humans
  • Male
  • Pedigree
  • Polycystic Kidney, Autosomal Dominant / genetics*


  • DNA, Recombinant