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DNA‐based presymptomatic diagnosis of Wilson disease
Author(s) -
Gaffney D.,
Walker J. L.,
O'Donnell J. G.,
Fell G. S.,
O'Neill K. F.,
Park R. H. R.,
Russell R. I.
Publication year - 1992
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01799625
Subject(s) - asymptomatic , wilson's disease , liver biopsy , disease , medicine , restriction fragment length polymorphism , biopsy , copper metabolism , liver disease , gastroenterology , pathology , genotype , genetics , copper , biology , chemistry , gene , organic chemistry
Summary 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.