Polymorphic microsatellites and Wilson disease (WD)

• Published in: American journal of human genetics Vol. 53; no. 4; pp. 864 - 873
• Main Authors: STEWART, E. A, WHITE, A, SEO, J. K, LO, W. H.-Y, IVANOVA-SMOLENSKAYA, I. A, LIMBORSKA, S. A, CAVALLI-SFORZA, L. L, FARRER, L. A, BOWCOCK, A. M, TOMFOHRDE, J, OSBORNE-LAWRENCE, S, PRESTRIDGE, L, BONNE-TAMIR, B, SCHEINBERG, I. H, GEORGE-HYSLOP, P. ST, GIAGHEDDU, M, KIM, J.-W
• Format: Journal Article
• Language: English
• Published: Chicago, IL University of Chicago Press 01-10-1993
• Subjects: Adolescent; Base Sequence; BASIC BIOLOGICAL SCIENCES; Biological and medical sciences; BIOLOGICAL MARKERS; Chromosome Mapping; CHROMOSOMES; Chromosomes, Artificial, Yeast; Chromosomes, Human, Pair 13; COPPER; DISEASES; DNA Primers; DNA, Satellite; ELEMENTS; Female; GENETIC MAPPING; Genetic Markers; Hepatolenticular Degeneration - diagnosis; Hepatolenticular Degeneration - genetics; HUMAN CHROMOSOME 13; HUMAN CHROMOSOMES; HUMAN POPULATIONS; Humans; Infant, Newborn; Linkage Disequilibrium; Male; MAPPING; Medical sciences; METABOLIC DISEASES; METALS; Metals (hemochromatosis...); Molecular Sequence Data; Original; Other metabolic disorders; Pedigree; Polymorphism, Genetic; POPULATIONS; SCREENING; Sequence Tagged Sites; TRANSITION ELEMENTS 550400 > Genetics; Genetic mapping; Human; Microsatellite; Nervous system diseases; Genetic marker; Wilson disease; Metabolic diseases; Enzymopathy; Genetic disease; Digestive diseases; D13-Chromosome; Satellite chromosome; Molecular biology; Copper; Physical map; Polymorphism
• ISSN: 0002-9297; 1537-6605

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%.