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

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

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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

Tsitologiya i Genetika 2009, vol. 43, no. 3, pp. 42-47

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, vol. 43, no. 3, pp. 42-47.