Assignment of the Gene for Wilson Disease to Chromosome 13: Linkage to the Esterase D Locus

Overview

Journal Proc Natl Acad Sci U S A

Specialty Science

Date 1985 Mar 1

PMID 3856863

Citations 72

Authors

M Frydman

B Bonne-Tamir

L A Farrer

P M Conneally

A Magazanik

S Ashbel

Z Goldwitch

Affiliations

Soon will be listed here.

Abstract

Wilson disease (WD) is an autosomal recessively inherited disorder of copper metabolism for which the basic defect is still unknown. Twenty-seven autosomal markers were investigated for linkage in a large inbred kindred with affected individuals in two generations. Also, serum copper and ceruloplasmin were measured on all available members. Close linkage (theta = 0.06) with a logarithm of odds (lod) score of 3.21 was found between the gene for WD and the esterase D locus. Efficient detection of linkage was made possible by the use of a multisibship inbred pedigree. The discovery of a polymorphic marker genetically linked to the WD locus has profound implications both for investigation of the primary gene defect and for clinical services.

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