Nature Genetics
5, 338 - 343 (1993)
doi:10.1038/ng1293-338
Mapping, cloning and genetic characterization of the region containing the Wilson disease geneK. Petrukhin1, 2, S. G. Fischer3, M. Pirastu4, R.E. Tanzi5, I. Chernov1, 2, M. Devoto1, 2, L. M. Brzustowicz1, 2, E. Cayanis3, E. Vitale1, 2, J. J. Russo3, D. Matseoane1, 2, B. Boukhgalter3, W. Wasco5, A. L. Figus4, J. Loudianos4, A. Cao4, I. Sternlieb6, 7, 8, O. Evgrafov9, E. Parano10, L. Pavone10, D. Warburton11, J. Ott1, 2, 11, G. K. Penchaszadeh1, 2, I. H. Scheinberg6, 7, 8
& T.C. Gilliam1, 2, 11
1Department of Psychiatry, 722 W 168th St. Unit 23, New York, New York 10032, USA
2Department of New York State Psychiatric Institute, 722 W 168th St. Unit 23, New York, New York 10032, USA
3Department of Biochemistry and Molecular Biophysics, 722 W 168th St. Unit 23, New York, New York 10032, USA
4Istituto di Ricerca sulle Talassemie ed Anemie Mediterrannee, Cagliari, Italy
5Neuroscience Department, Harvard Medical School, Boston, Massachuestts, USA
6Department of Medicine at Columbia University, 722 W 168th St. Unit 23, New York, New York 10032, USA
7The National Center for the Study of Wilson's Disease, New York, N.Y. USA
8St. Luke's/Roosevelt Hospital, New York, N.Y. USA
9Research Center of Medical Genetics, Moscow Russia
10Pediatric Clinic, University of Catania, Italy
11Department of Genetics and Development, 722 W 168th St. Unit 23, New York, New York 10032, USA Correspondence should be addressed to T.C.G. Wilson disease (WD) is an autosomal recessive disorder of copper transport which maps to chromosome 13q14.3. In pursuit of the WD gene, we developed yeast artificial chromosome and cosmid contigs, and microsatellite markers which span the WD gene region. Linkage disequilibrium and haplotype analysis of 115 WD families confined the disease locus to a single marker interval. A candidate cDNA clone was mapped to this interval which, as shown in the accompanying paper, is very likely the WD gene. Our haplotype and mutation analyses predict that approximately half of all WD mutations will be rare in the American and Russian populations.
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