A family with autosomal dominant polycystic kidney disease not linked to chromosome 16p13.3

Clin Genet. 1993 Oct;44(4):173-6. doi: 10.1111/j.1399-0004.1993.tb03874.x.


A family of Sicilian origin with autosomal dominant polycystic kidney disease (APKD) has been shown to be unlinked to chromosome 16 markers. LOD scores for the polymorphic markers 3'HVR and SM7 flanking the PKD 1 locus, were -1.4 and -2.33 respectively, and theta max was 0.5 for each marker. The clinical phenotype of this family is consistent with that of the other non-linked families with APKD reported in the literature, all outside the United Kingdom, which have a milder progression than those linked to 16p13.3. Assuming that a clinic population represents the most severe forms of a disease and non PKD-1 is a less aggressive phenotype, the degree of genetic heterogeneity for APKD in the population may well be much greater than at present suggested.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Chromosomes, Human, Pair 16*
  • DNA / blood
  • Family
  • Female
  • Genetic Linkage
  • Humans
  • Lod Score
  • Male
  • Middle Aged
  • Pedigree
  • Polycystic Kidney, Autosomal Dominant / genetics*
  • Silver Staining


  • DNA