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Genetic aspects of Wilson's disease
Author(s) -
FRYDMAN MOSHE
Publication year - 1990
Publication title -
journal of gastroenterology and hepatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.214
H-Index - 130
eISSN - 1440-1746
pISSN - 0815-9319
DOI - 10.1111/j.1440-1746.1990.tb01427.x
Subject(s) - disease , genetics , genetic linkage , positional cloning , allele , gene , chromosome , medicine , mutation , liver disease , genetic marker , biology , pathology , phenotype
Wilson's disease is an autosomal recessive, inborn error of copper metabolism. The basic defect is unknown but decreased biliary excretion of copper is associated with copper accumulation and damage to the liver, brain and other organs with variable clinical expression. The gene for the disease has been mapped to band 14.1–21.1 of the long arm of chromosome 13, and an increasing number of flanking DNA markers has become available in recent years. Family studies using these markers offer the first diagnostic tool which is independent of copper metabolism. This method has been applied successfully for carrier detection in siblings of patients and has the potential to be used for prenatal diagnosis. The results of linkage studies in families of different ethnic origins suggest that the disease is associated with a mutation at a single chromosomal region. The assignment of the gene to chromosome 13 and the availability of closely linked markers are the first steps towards cloning of the disease gene and eventually may lead to determination of the basic metabolic defect.