title: Polymorphic microsatellites and Wilson disease (WD).
abstract: Wilson disease (WD), an autosomal recessive disorder of copper metabolism, has been previously mapped to chromosome 13q. Highly informative PCR-based polymorphic microsatellites closely linked to the WD locus (WND) at 13q14.3, as well as sequence-tagged sites for closely linked loci, are described. Two polymorphic microsatellite markers at D13S118 and D13S119 lie within 3 cM of WND. Two others (D13S227 and D13S228) were derived from a yeast artificial chromosome containing D13S31. These were placed on a genetic linkage map of chromosome 13 and were typed in 74 multiplex WD families from a variety of geographic origins (166 affected members). Multipoint analysis provides very high odds that the location of WND is between D13S31/D13S227/D13S228 and D13S59. Previous odds with RFLP-based markers were only 7:1 more likely than any other location. Current odds are 5,000:1. Preclinical testing of three cases of WD by using the highly informative polymorphic microsatellite markers is described. The markers described here ensure that 95% of predictive tests using DNA from both parents and from at least one affected sib will have an accuracy > 99%.
authors.affiliation: Department of Genetics, Stanford University.
authors.forename: E A
authors.initials: EA
authors.lastname: Stewart
authors.forename: A
authors.initials: A
authors.lastname: White
authors.forename: J
authors.initials: J
authors.lastname: Tomfohrde
authors.forename: S
authors.initials: S
authors.lastname: Osborne-Lawrence
authors.forename: L
authors.initials: L
authors.lastname: Prestridge
authors.forename: B
authors.initials: B
authors.lastname: Bonne-Tamir
authors.forename: I H
authors.initials: IH
authors.lastname: Scheinberg
authors.forename: P
authors.initials: P
authors.lastname: St George-Hyslop
authors.forename: M
authors.initials: M
authors.lastname: Giagheddu
authors.forename: J W
authors.initials: JW
authors.lastname: Kim
mesh_terms: D000293:Adolescent; D001483:Base Sequence; D002874:Chromosome Mapping; D018244:Chromosomes, Artificial, Yeast; D002882:Chromosomes, Human, Pair 13; D017931:DNA Primers; D004276:DNA, Satellite; D005260:Female; D005819:Genetic Markers; D006527:Hepatolenticular Degeneration / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D015810:Linkage Disequilibrium; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D011110:Polymorphism, Genetic; D016324:Sequence Tagged Sites
chemical_list: D017931:DNA Primers; D004276:DNA, Satellite; D005819:Genetic Markers