Assignment of the gene for Wilson disease to chromosome 13: linkage to the esterase D locus.
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.
D043182:Carboxylesterase; D002265:Carboxylic Ester Hydrolases / Q000235:genetics*; D002874:Chromosome Mapping; D002901:Chromosomes, Human, 13-15; D003241:Consanguinity; D005260:Female; D008040:Genetic Linkage; D006527:Hepatolenticular Degeneration / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree
D002265:Carboxylic Ester Hydrolases; D043182:Carboxylesterase; C020118:ESD protein, human