Molecular Genetic Screening of the Isolated Population with High Frequency of Wilson Disease
Wilson disease is a rare recessive autozomal disorder fatal if is not early diagnosed which is caused by mutations in ATP7B gene. The disorder is due to dramatic build-up of intracellular cooper by blocking his metabolisation with subsequent neurologic and hepatic abnormalities. In our country, in Rucar region, 5 cases in a population of 7000 have been identified with Wilson disease, which represents 50 fold more than normal prevalence. Theoretically, 5 in 9 teenager could be a carrier of the mutations. The high number of cases in Rucar urgently requires actions to be taken. In a modern society this high frequency of Wilson disease requires a genetic screening. The genetic screening should take into account the population between 0 and 18 years of age and have two main objectives. First objective to be achieved is the identification of the unidentified cases (the disorder clinically occurs after 18 years) which could have major implication in rapid diagnosis of the studied cases and applicability in genetic counseling. Second objective is the identification of carriers. Around the world, Wilson disease has been clinically studied and genetic studies focused on the identification of new mutations. There are no molecular screening studies in isolated population with high frequency of this disorder and there are no informations about the early treatment. The anthropo-genetic methods proposed by this study, such as identification of the presence of a given mutation instead of sequencing strategy to found new mutations, which is time consuming and expensive, would help us to bring the project to completion in a short time. WHO gives a great attention to the role of genetics in order to obtain a high level of health in population around the world.
