An Italian family with autosomal dominant polycystic kidney disease unlinked to either the PKD1 or PKD2 gene

Am J Kidney Dis. 1996 Nov;28(5):759-61. doi: 10.1016/s0272-6386(96)90261-9.

Abstract

We describe a family with autosomal dominant polycystic kidney disease in which molecular typing with closely linked markers for the PKD1 and PKD2 genes indicated absence of linkage. Thus, a third still unknown locus appears likely to be involved in disease development. This is the fourth "PKD3-linked" family described to date and the first from Italy.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Chromosome Mapping
  • Chromosomes, Human, Pair 16
  • Chromosomes, Human, Pair 4
  • Female
  • Genetic Linkage*
  • Haplotypes
  • Humans
  • Italy / epidemiology
  • Male
  • Middle Aged
  • Pedigree
  • Polycystic Kidney, Autosomal Dominant / epidemiology
  • Polycystic Kidney, Autosomal Dominant / genetics*