Mapping, Cloning and Genetic Characterization of the Region
Containing the Wilson Disease Gene
K. Petrukhin, S.G. Fischer, M. Pirastu, R.E. Tanzi, I. Chernov,
M. Devoto, L.M. Brzustowicz, E. Cayanis, E. Vitale,
J. Russo, D. Matseoane, B. Boukhgalter, W. Wasco, A.L. Figus,
J. Loudianos, A. Cao, I. Sternlieb, G. Evgrafov, E. Parano,
L. Pavone, D. Warburton, J. Ott,
G. Penchaszadeh, I.H. Scheinberg, T.C. Gilliam
Nature Genetics , 5(4), 338--343 (1993 Dec)
Abstract
Wilson disease (WD) is an autosomal recessive disorder of copper
transport which map 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.
