title: Close linkage of the Wilson's disease locus to D13S12 in the chromosomal region 13q21 and not to ESD in 13q14.
abstract: Wilson's disease (WD) is an autosomal recessive disorder resulting in copper accumulation notably in liver and brain tissue. Linkage of the WD locus (WND) to ESD at 13q14 was first shown by studies in families of Middle Eastern origin using the isozymic polymorphism of esterase D. Using RFLPs detected by the ESD cDNA we could not confirm this reported close linkage in an analysis of 17 WD families of northwest European origin. A tight linkage was detected, however, to the marker D13S12, located more distally at 13q21. No obligate cross-overs were detected in 63 gametes informative for this marker. Our data confirm an assignment of WND to 13q14-21. Its localization, however, seems to be more distal to ESD than previously reported. Although genetic heterogeneity cannot be excluded, the observed differences between the two populations are probably due to random variation.
authors.affiliation: Department of Pediatrics, University of Groningen, The Netherlands.
authors.forename: R H
authors.initials: RH
authors.lastname: Houwen
authors.forename: H
authors.initials: H
authors.lastname: Scheffer
authors.forename: G J
authors.initials: GJ
authors.lastname: te Meerman
authors.forename: P
authors.initials: P
authors.lastname: van der Vlies
authors.forename: C H
authors.initials: CH
authors.lastname: Buys
mesh_terms: D043182:Carboxylesterase; D002265:Carboxylic Ester Hydrolases / Q000235:genetics*; D002874:Chromosome Mapping; D002882:Chromosomes, Human, Pair 13; D004247:DNA; D005060:Europe; D005260:Female; D008040:Genetic Linkage; D006527:Hepatolenticular Degeneration / Q000097:blood / Q000235:genetics*; D006801:Humans; D008214:Lymphocytes / Q000648:ultrastructure; D008297:Male; D010375:Pedigree
chemical_list: D004247:DNA; D002265:Carboxylic Ester Hydrolases; D043182:Carboxylesterase; C020118:ESD protein, human