Abstract
Wilson's disease (WND) is an autosomal recessive disorder of copper metabolism, The metabolic defect is still unknown, but the locus ol the disease has been mapped to chromosome 13q14-q21. Using polymorphic DNA markers in affected families, we are now able to recognize WND before the onset of clinical manifestations.
PATIENTS AND METHODS 121 subjects have been studied. They belonged to 31 families having at least one affected member. Genomic DNA was analyzed by Southern blots. Four different probes were used for the analysis of RFLPs D13 S 31 (polymorphism with Taq). D13 S 59 (polymorphism with Banil). D13 S 26 (polymorphism with HphI) and RB (retinoblastoma gene, polymorphism with RSaI).
RESULTS Using these four probes. 80% of the families were informative, and allowed to distinguish between heterozygotes and homozygotes. In some cases, the use of probes localized on both sides of the WND locus, yielded a 95% informativity.
CONCLUSION
RFLP analysis is a simple method to study the sibship of a patient with WND, It allows to avoid other investigations such as serum caerutoplasmin, urinary copper, liver needle biopsy. Furthermore DNA analysis allows presymplomatic diagnosis ol WND an thus an early treatment with D-penicillamin.
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Labrune, P., Misrahi, M., Hadehouel, M. et al. MOLECULAR DIAGNOSIS OF PRESYMPTOMATIC Wilson's Disease. Pediatr Res 35, 267 (1994). https://doi.org/10.1203/00006450-199402000-00074
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DOI: https://doi.org/10.1203/00006450-199402000-00074