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 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; among them one from the relevant chromosomal segment 13q14. Preliminary results are from a first seven Dutch WD families, with 35 children classified as affected or normal based on serum copper, ceruloplasmin and 24h urinary copper excretion. In these families one recombinant was found for the two probes localized in 13q14.A positive lodscore was obtained for both probes corroborating the assignment of the WD gene Id band q14 of chromosome 13 and suggesting absence of heterogeneity.
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Houwen, R., Scheffer, H., Te Meerman, G. et al. LINKAGE OF DNA MARKERS ON CHROMOSOME 13 WITH WILSON DISEASE. Pediatr Res 22, 238 (1987). https://doi.org/10.1203/00006450-198708000-00152
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DOI: https://doi.org/10.1203/00006450-198708000-00152
