Gryshchenko N.V., Kucherenko A.M., Patscun E.I., Livshits L.A.

Study of the association of genotype and phenotypical features of the pathogenesis of Huntington’s chorea

TSitologiia i genetika 2009, v 43, Issue 3, 42-47

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

Gryshchenko N.V., Kucherenko A.M., Patscun E.I., Livshits L.A. Study of the association of genotype and phenotypical features of the pathogenesis of Huntington’s chorea // Tsitol Genet. – 2009. – 43(3). – P. 42-47.