| Literature DB >> 3856863 |
M Frydman, B Bonné-Tamir, L A Farrer, P M Conneally, A Magazanik, S Ashbel, Z Goldwitch.
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.Entities:
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Year: 1985 PMID： 3856863 PMCID： PMC397364 DOI： 10.1073/pnas.82.6.1819
Source DB: PubMed Journal: Proc Natl Acad Sci U S A ISSN： 0027-8424 Impact factor: 11.205