Linkage study of a large family with autosomal dominant polycystic kidney disease with reduced expression: Absence of linkage to the PKD1 locus

We describe a large three generation family with autosomal dominant polycystic kidney disease (PKD). Ultrasonographic screening of 60 family members revealed 20 individuals, whose age ranged from ten to eighty years, with one or several cysts in only one kidney and 7 individuals with cysts in both k...

Full description

Saved in:
Bibliographic Details
Published in:Human genetics 1990-07, Vol.85 (2), p.221-227
Main Authors: Bachner, Lucien, Vinet, MarieClaude, Lacave, Roger, Babron, MarieClaude, Rondeau, Eric, Sraer, JeanDaniel, Chevet, Dominique, Kaplan, Jean-Claude
Format: Article
Language:English
Subjects:
genes
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:We describe a large three generation family with autosomal dominant polycystic kidney disease (PKD). Ultrasonographic screening of 60 family members revealed 20 individuals, whose age ranged from ten to eighty years, with one or several cysts in only one kidney and 7 individuals with cysts in both kidneys. Transmission of unilateral cysts seems to be autosomal dominant, although there are some generation gaps. Linkage studies with several markers of the PKD1 locus on the short arm of chromosome 16 showed no linkage with the disease. Lod scores for linkage between the disease and the most informative marker 3'HVR were computed using different penetrance models and several hypotheses concerning the clinical status of individuals with unilateral renal cysts.
ISSN:0340-6717
1432-1203
DOI:10.1007/BF00193200