DNA‐based presymptomatic diagnosis of Wilson disease
- 16 August 1991
- journal article
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 15 (2) , 161-170
- https://doi.org/10.1007/bf01799625
Abstract
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.Keywords
This publication has 14 references indexed in Scilit:
- Close linkage of the Wilsons's disease locus to D13S12 in the chromosomal region 13q21 and not to ESD in 13q14Human Genetics, 1990
- Carrier detection and early diagnosis of Wilson's disease by restriction fragment length polymorphism analysis.Journal of Medical Genetics, 1989
- 8 CLOSELY LINKED LOCI PLACE THE WILSON DISEASE LOCUS WITHIN 13Q14-Q211988
- LINKAGE OF THE WILSON DISEASE GENE TO CHROMOSOME-13 IN NORTH-AMERICAN PEDIGREES1988
- Predicting genotypes at loci for autosomal recessive disorders using linked genetic markers: application to Wilson's diseaseHuman Genetics, 1988
- Polymorphisms revealed by random probe H2-10 [D13S26] which maps to chromosome 13q21-q22Nucleic Acids Research, 1988
- Molecular cloning of the human esterase D gene, a genetic marker of retinoblastoma.Proceedings of the National Academy of Sciences, 1986
- Assignment of the gene for Wilson disease to chromosome 13: linkage to the esterase D locus.Proceedings of the National Academy of Sciences, 1985
- A technique for radiolabeling DNA restriction endonuclease fragments to high specific activityAnalytical Biochemistry, 1984
- Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants.Proceedings of the National Academy of Sciences, 1977