Autosomal dominant polycystic kidney disease: evidence for the existence of a third locus in a Portuguese family

Hum Genet. 1995 Jul;96(1):83-8. doi: 10.1007/BF00214191.


Autosomal dominant polycystic kidney disease is characterized by clinical and genetic heterogeneity. Two loci implicated in the disease have previously been mapped (PKD1 on chromosome 16 and PKD2 on chromosome 4). By two point and multipoint linkage analysis, negative lod scores have been found for both chromosome 16 and chromosome 4 markers in a large Portuguese family, indicating that a third PKD locus is involved in the development of the disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Mapping*
  • Chromosomes, Human, Pair 16 / genetics*
  • Chromosomes, Human, Pair 4 / genetics*
  • Female
  • Genetic Linkage
  • Genetic Markers
  • Humans
  • Lod Score
  • Male
  • Pedigree
  • Polycystic Kidney Diseases / genetics*
  • Portugal


  • Genetic Markers