Autosomal dominant polycystic kidney disease and alpha -4.2 thalassemia in a Caucasian family

Hum Genet. 1989 Aug;83(1):55-7. doi: 10.1007/BF00274148.

Abstract

We describe the first known association between autosomal dominant polycystic kidney disease (ADPKD) and alpha-4.2 thalassemia in a Caucasian family. Linkage studies have been carried out using two probes (3'HVR and 24-1) linked to ADPKD on locus PKD1 and two probes (alpha 1-PstI and BamH-I/EcoRI-zeta 2 fragment) allowing detection of alpha-thalassemia with either a 3.7-kb deletion or a 4.2-kb deletion. Our results show that to avoid misinterpretation it is important to investigate the occurrence of an alpha-gene deletion when polymorphisms situated in the alpha-globin locus are used for linkage studies on ADPKD. The studied family is one of the rare cases of leftward deletional thalassemia described in a non-Asian population.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Deletion*
  • Chromosomes, Human, Pair 16 / ultrastructure*
  • DNA Probes
  • Female
  • Genes, Dominant
  • Genetic Linkage
  • Humans
  • Male
  • Pedigree
  • Polycystic Kidney Diseases / complications
  • Polycystic Kidney Diseases / genetics*
  • Thalassemia / complications
  • Thalassemia / genetics*

Substances

  • DNA Probes