Genetic linkage studies of autosomal dominant polycystic kidney disease: search for the second gene in a large Sicilian family

Shrawan Kumar, William J. Kimberling, Patricia A. Gabow, Judy B. Kenyon

Research output: Contribution to journalArticle

3 Scopus citations

Abstract

Polycystic kidney disease (PKD) is a common autosomal dominant genetic disorder caused by mutation in at least two different gene loci. The PKD1 gene has been localized on the short arm of chromosome 16. The location of a second genetic locus in the human genome is not yet known. A large PKD kindred, unlinked to chromosome 16, with over 250 members was studied using both DNA and classical markers. In total, 29 informative marker loci on 11 autosomes have been analyzed for linkage with PKD. The data significantly exclude the linkage with disease locus from 17 marker loci and show no evidence of close linkage with the other loci.

Original languageEnglish (US)
Pages (from-to)129-133
Number of pages5
JournalHuman genetics
Volume87
Issue number2
DOIs
StatePublished - Jun 1 1991
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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