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

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.

• Authors: M Frydman, B Bonné-Tamir, L A Farrer, P M Conneally, A Magazanik, S Ashbel, Z Goldwitch
• Journal: Proceedings of the National Academy of Sciences of the United States of America (Proc Natl Acad Sci U S A) Vol. 82 Issue 6 Pg. 1819-21 (Mar 1985) ISSN: 0027-8424 [Print] United States
• PMID: 3856863 (Publication Type: Comparative Study, Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• Carboxylic Ester Hydrolases
• Carboxylesterase
• ESD protein, human

Topics

• Carboxylesterase
• Carboxylic Ester Hydrolases (genetics)
• Chromosome Mapping
• Chromosomes, Human, 13-15
• Consanguinity
• Female
• Genetic Linkage
• Hepatolenticular Degeneration (enzymology, genetics)
• Humans
• Male
• Pedigree