Human Genetics

, Volume 76, Issue 4, pp 348–351

A study of genetic linkage heterogeneity in adult polycystic kidney disease

  • Stephen T. Reeders
  • Martijn H. Breuning
  • Markku A. Ryynanen
  • Alan F. Wright
  • Kay E. Davies
  • Andrew W. King
  • Michael L. Watson
  • David J. Weatherall
Original Investigations

Summary

The mutation for adult polycystic kidney disease (APKD) has previously been localised to chromosome 16 by the demonstration of genetic linkage with the loci for the alpha-chain of haemoglobin and phosphoglycolate phosphatase. These studies were carried out, however, on only nine families so that the possibility remained that mutations at other genetic loci might produce the disease. Such genetic heterogeneity of linkage would invalidate the general use of chromosome 16 markers for the purposes of detection of the disease, and complicate the characterisation of APKD at the molecular level. Therefore further families were studied to address this question. A total of 28 northern European pedigrees were analysed, all apparently unrelated, and with origins in England, Scotland, Holland and eastern Finland. No evidence was found to suggest heterogeneity of genetic linkage between alpha-globin and the APKD locus in this population.

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Copyright information

© Springer-Verlag 1987

Authors and Affiliations

  • Stephen T. Reeders
    • 1
  • Martijn H. Breuning
    • 2
  • Markku A. Ryynanen
    • 3
  • Alan F. Wright
    • 4
  • Kay E. Davies
    • 1
  • Andrew W. King
    • 1
  • Michael L. Watson
    • 4
  • David J. Weatherall
    • 1
  1. 1.Nuffield Department of Medicine, John Radcliffe HospitalUniversity of OxfordOxfordUK
  2. 2.Department of Human Genetics, Sylyius LaboratoriesUniversity of LeidenLeidenThe Netherlands
  3. 3.Department of Medical GeneticsKuopio University HospitalKuopioFinland
  4. 4.MRC Clinical and Population Cytogenetics UnitEdinburghUK

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