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Study of the association of genotype and phenotypical features of the pathogenesis of Huntington’s chorea
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Direct molecular-genetic analysis of CAG- and CCG-polymorphism has been carried out in 37 patients with Huntington disease (HD) clinical diagnosis. Heterozygote expanded HD alleles were found in 33 patients, in 4 cases DNA-analysis did not confirm the preliminary clinic diagnosis. Twenty asymptomatic high risk carriers were analyzed, 11 individuals inherited HD chromosome. Linkage disequilibrium between expanded CAG-alleles and the (CGG)10-allele of IT15 gene in the group of HD-patients from Ukraine has been displayed. The significant differences in CAG-repeat sex-determined instability inheritance have been revealed. The genetic factors associated with the HD age of onset have been analyzed.
Key words: Huntington Disease, IT15 gene, CAG-repeats, CCG-repeats, del2642 polymorphism
|Coded & Designed by Volodymyr Duplij||Modified 24.07.21|