Abstract
Wilson disease (WD) is an autosomal recessive disorder, characterized by massive copper deposition in the liver, basal ganglia and other organs, due to an impairment of biliary copper excretion. The basic defect in WD is still unknown. Recently a linkage has been reported between the gene for WD and the esterase D locus by determination of esterase D phenotypes in a large inbred Israeli-Arab kindred. This implies that the q14 band of chromosome 13 would be the location of the WD gene, at least in part of the Middle East population.
To examine this assignment we are now studying a number of unrelated WD families of Caucasian origin. Linkage studies are carried out using a cDNA probe of esterase D and random probes from a chromosome 13 library. Preliminary results are from a first five Dutch WD families, with 27 children classified as affected or normal based on serum copper, ceruloplasmin and 24h urinary copper excretion. In these families seven recombinants were found with a probe localised proximal of band q14, and only one with a probe localised in q14. A positive lodscore was obtained for the latter probe (z=0.35 O=0.15), corroborating the assignment of the WD gene to band q14 of chromosome 13 and suggesting absence of heterogeneity for WD.
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Houwen, R., Scheffer, H., te Meerman, G. et al. 5. LINKAGE OF DNA MARKERS ON CHROMOSOME 13 WITH WILSON DISEASE. Pediatr Res 22, 97 (1987). https://doi.org/10.1203/00006450-198707000-00026
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DOI: https://doi.org/10.1203/00006450-198707000-00026