MAPPING, CLONING AND GENETIC-CHARACTERIZATION OF THE REGION CONTAINING THE WILSON DISEASE GENE

Wilson disease (WD) is an autosomal recessive disorder of copper trans port which maps to chromosome 13q14.3. In pursuit of the WD gene, we d eveloped yeast artificial chromosome and cosmid contigs, and microsate llite markers which span the WD gene region. Linkage disequilibrium an d haplotype analysis of 115 WD families confined the disease locus to a single marker interval. A candidate cDNA clone was mapped to this in terval which, as shown in the accompanying paper, is very likely the W D gene. Our haplotype and mutation analyses predict that approximately half of all WD mutations will be rare in the American and Russian pop ulations.