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.
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; Devoto, Marcella; L. M., Brzustowicz; E., Cayanis; E., Vitale; J. 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. K., Penchaszadeh; I. H., Scheinberg; T. C., Gilliam. - In: NATURE GENETICS. - ISSN 1061-4036. - 5:4(1993), pp. 338-343. [10.1038/ng1293-338]
Mapping, cloning and genetic characterization of the region containing the Wilson disease gene.
DEVOTO, MARCELLA;
1993
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
