DNA-based presymptomatic diagnosis of Wilson disease

J Inherit Metab Dis. 1992;15(2):161-70. doi: 10.1007/BF01799625.


Investigation using DNA markers in a family with Wilson disease revealed that an apparently normal child of 10 years of age with non-diagnostic copper biochemistry had the disease. The procedure used linked restriction fragment length polymorphic markers. Demonstration of increased liver copper concentration from a liver biopsy confirmed the diagnosis and the child was started on chelation therapy. Two other asymptomatic siblings were shown, using the same techniques, not to have the disease. Similar analysis was carried out on another family with just one index case.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosomes, Human, Pair 13
  • DNA / analysis*
  • Female
  • Genetic Carrier Screening
  • Genetic Markers*
  • Haplotypes
  • Hepatolenticular Degeneration / diagnosis*
  • Hepatolenticular Degeneration / genetics
  • Humans
  • Male
  • Pedigree
  • Polymorphism, Restriction Fragment Length


  • Genetic Markers
  • DNA