Original Investigations

Human Genetics

, Volume 76, Issue 4, pp 348-351

A study of genetic linkage heterogeneity in adult polycystic kidney disease

  • Stephen T. ReedersAffiliated withNuffield Department of Medicine, John Radcliffe Hospital, University of Oxford
  • , Martijn H. BreuningAffiliated withDepartment of Human Genetics, Sylyius Laboratories, University of Leiden
  • , Markku A. RyynanenAffiliated withDepartment of Medical Genetics, Kuopio University Hospital
  • , Alan F. WrightAffiliated withMRC Clinical and Population Cytogenetics Unit
  • , Kay E. DaviesAffiliated withNuffield Department of Medicine, John Radcliffe Hospital, University of Oxford
  • , Andrew W. KingAffiliated withNuffield Department of Medicine, John Radcliffe Hospital, University of Oxford
  • , Michael L. WatsonAffiliated withMRC Clinical and Population Cytogenetics Unit
  • , David J. WeatherallAffiliated withNuffield Department of Medicine, John Radcliffe Hospital, University of Oxford

Rent the article at a discount

Rent now

* Final gross prices may vary according to local VAT.

Get Access

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.