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|Contact 1||Linda Piekuse|
|Contact 2||Linda Gabrusenoka|
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Rīga Stradiņš University
Scientific Laboratory of Molecular Genetics - Latvia, Rīga
Wilson’s disease is an inherited disorder in which defective biliary excretion of copper leads to its accumulation, particularly in liver and brain. Wilson’s disease is due to mutations of the ATP7B gene on chromosome 13 which encodes a copper-transporting P-type ATPase (ATP7B) residing in the trans-Golgi network of hepatocytes. Wilson’s disease is a genetic disorder that is found worldwide. Wilson’s disease is recognized to be more common than previously thought, with a gene frequency of 1 in 90–150 and an incidence (based on adults presenting with neurologic symptoms) that may be as high as 1 in 30,000. More than 500 distinct mutations have been described in the Wilson gene, from which 380 have a confirmed role in the pathogenesis of the disease, most common in the Central Europe is H1069Q (EASL guidelines, 2012) .
Sample DNA or material for DNA isolation. H1069Q mution in patients DNA is detected by bi-Pasa PCR and PAGE.
Negotiable. Depends on many factors: for example, number of samples.