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. 1993 Oct;53(4):864-73.

Polymorphic microsatellites and Wilson disease (WD)

E A Stewart  1 , A White, J Tomfohrde, S Osborne-Lawrence, L Prestridge, B Bonne-Tamir, I H Scheinberg, P St George-Hyslop, M Giagheddu, J W Kim, et al.
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Polymorphic microsatellites and Wilson disease (WD)

E A Stewart et al. Am J Hum Genet. 1993 Oct.

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%.

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