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PMID: 3856863 Published · ppublish English Comparative Study Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

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

Proceedings of the National Academy of Sciences of the United States of America ·Vol. 82 ·No. 6 ·1985-03-00 ·Pages 1819-21

Frydman M, Bonné-Tamir B, Farrer LA, Conneally PM, Magazanik A, Ashbel S, Goldwitch Z

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.

MeSH Terms
Carboxylesterase Carboxylic Ester Hydrolases/genetics Chromosome Mapping Chromosomes, Human, 13-15 Consanguinity Female Genetic Linkage Hepatolenticular Degeneration/enzymology,genetics Humans Male Pedigree
Chemicals
Carboxylic Ester Hydrolases Carboxylesterase ESD protein, human
Authors & Affiliations
7 authors, click to expand affiliations / ORCID
Frydman M
Bonné-Tamir B
Farrer L A
Conneally P M
Magazanik A
Ashbel S
Goldwitch Z
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17 references, click to expand
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Article Info
Journal
Proceedings of the National Academy of Sciences of the United States of America
Abbr.
Proc Natl Acad Sci U S A
ISSN
0027-8424
DOI
10.1073/pnas.82.6.1819
Published
1985-03-00
Pages
1819-21
Language
English
Region
United States
NLM ID
7505876
PMCID
PMC397364
Subset
IM
Grants
NIGMS NIH HHS · GM26659 · United States
External Links
PubMed source DOI: 10.1073/pnas.82.6.1819 PMC Full Text View journal details
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