Linkage Study of a Large Family with Autosomal Dominant Polycystic Kidney Disease with Reduced Expression. Absence of Linkage to the PKD 1 Locus

Overview

Journal Hum Genet

Specialty Genetics

Date 1990 Jul 1

PMID 2370053

Citations 4

Authors

L Bachner

M C Vinet

R Lacave

M C Babron

E Rondeau

J D Sraer

D Chevet

J C Kaplan

Affiliations

Soon will be listed here.

Abstract

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. Results varied from Z = 1.31 to Z = -21.47 (theta = 0). Smith's test of heterogeneity gave a conditional probability of non-linkage between 0.9 and 1.0. We conclude that this family presents a form of autosomal dominant PKD with reduced penetrance and no linkage to the PKD1 locus on the short arm of chromosome 16. Other hypotheses, such as the existence of two distinct hereditary diseases in this large family, or neomutation in one branch of the family associated with a high frequency of isolated renal cysts, are also considered.

Citing Articles

Evidence of linkage disequilibrium in the Spanish polycystic kidney disease I population.

Peral B, Ward C, San Millan J, Thomas S, Stallings R, Moreno F Am J Hum Genet. 1994; 54(5):899-908.

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Estimating locus heterogeneity in autosomal dominant polycystic kidney disease (ADPKD) in the Spanish population.

Peral B, San Millan J, Hernandez C, Valero A, Lathrop G, Beckmann J J Med Genet. 1993; 30(11):910-3.

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Genetic heterogeneity of polycystic kidney disease in Bulgaria.

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

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