Mapping, cloning and genetic characterization of the region containing the Wilson disease gene

Nat Genet. 1993 Dec;5(4):338-43. doi: 10.1038/ng1293-338.


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.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Base Sequence
  • Chromosomes, Human, Pair 13*
  • Cosmids
  • Family
  • Female
  • Genetic Markers
  • Genomic Library
  • Genotype
  • Haplotypes / genetics*
  • Hepatolenticular Degeneration / genetics*
  • Humans
  • Linkage Disequilibrium
  • Male
  • Molecular Sequence Data
  • Mutation


  • Genetic Markers