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. 1985 Mar;82(6):1819–1821. doi: 10.1073/pnas.82.6.1819

Assignment of the gene for Wilson disease to chromosome 13: linkage to the esterase D locus.

M Frydman, B Bonné-Tamir, L A Farrer, P M Conneally, A Magazanik, S Ashbel, Z Goldwitch
PMCID: PMC397364  PMID: 3856863

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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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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