MOLECULAR-GENETIC TESTING IN DIAGNOSIS OF SPORADIC CASES OF HUNTINGTONS-DISEASE

Huntington's disease is characterized by autosomal dominant transmissi on and a complete penetrance of the mutant gene. Mutation in Huntingto n's disease consists in expansion of the unstable tandem CAG-trinucleo tide repeats, This discovery allowed to perform a precise DNA diagnosi s of the mutant gene carriers. Direct DNA diagnosis has a special impo rtance in sporadic cases of the disease. We performed direct DNA diagn osis in 4 patients with sporadic choreic hyperkinesis, and elaborated a modified protocol for DNA amplification. The obtained results are di scussed from the viewpoint of current knowledge about the nature of th e Huntington's disease gene.