Polymorphic microsatellites and Wilson disease (WD)

E. A. Stewart, A. White, J. Tomfohrde, S. Osborne-Lawrence, L. Prestridge, B. Bonne-Tamir, I. H. Scheinberg, P. St George-Hyslop, M. Giagheddu, J. W. Kim, J. K. Seo, W. H.Y. Lo, I. A. Ivanova-Smolenskaya, S. A. Limborska, L. L. Cavalli-Sforza, L. A. Farrer, A. M. Bowcock*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


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%.

Original languageEnglish
Pages (from-to)864-873
Number of pages10
JournalAmerican Journal of Human Genetics
Issue number4
StatePublished - Oct 1993


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