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

Abstract

Wilson diseaes (WD) is an autosomal recessively inherited disorder of Cu metabolism for which the basic defect is still unknown. Autosomal markers (27) were investigated for linkage in a large inbred kindred with affected individuals in 2 generations. Serum Cu and ceruloplasmin were measured on all available members. Close linkage (.theta. = 0.06) with a 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.