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...

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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
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container_end_page 227
container_issue 2
container_start_page 221
container_title Human genetics
container_volume 85
creator Bachner, Lucien
Vinet, MarieClaude
Lacave, Roger
Babron, MarieClaude
Rondeau, Eric
Sraer, JeanDaniel
Chevet, Dominique
Kaplan, Jean-Claude
description 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.
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title Linkage study of a large family with autosomal dominant polycystic kidney disease with reduced expression: Absence of linkage to the PKD1 locus
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