Evidence for a third genetic locus for autosomal dominant polycystic kidney disease

Genomics. 1995 Feb 10;25(3):733-6. doi: 10.1016/0888-7543(95)80020-m.


Autosomal dominant polycystic kidney disease (ADPKD) is a genetically heterogeneous disease with loci on chromosomes 16p and 4q. It has a moderately high spontaneous mutation rate, although the relative frequency of such mutations at each gene locus is unknown. In studying genetic heterogeneity in the French-Canadian population, we identified a family in which a classical clinical presentation of ADPKD resulted from a mutation at a locus genetically distinct from either of the previously described loci for this disease. This suggests the existence of a third genetic locus for ADPKD.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Aged
  • Base Sequence
  • Chromosomes, Human, Pair 16
  • Chromosomes, Human, Pair 4
  • DNA Primers
  • Female
  • Genes, Dominant*
  • Genetic Linkage
  • Humans
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Pedigree
  • Polycystic Kidney Diseases / genetics*


  • DNA Primers