[Study of the association of genotype and phenotype features of the pathogenesis of Huntington's chorea]

Tsitol Genet. 2009 May-Jun;43(3):42-7.
[Article in Ukrainian]


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 IT15gene 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.

MeSH terms

  • Adult
  • Age of Onset
  • DNA / genetics
  • Gene Frequency
  • Genotype
  • Heterozygote
  • Humans
  • Huntingtin Protein
  • Huntington Disease / epidemiology
  • Huntington Disease / genetics*
  • Middle Aged
  • Nerve Tissue Proteins / genetics*
  • Nuclear Proteins / genetics*
  • Pedigree
  • Phenotype
  • Polymerase Chain Reaction
  • Trinucleotide Repeat Expansion / genetics*
  • Ukraine / epidemiology


  • HTT protein, human
  • Huntingtin Protein
  • Nerve Tissue Proteins
  • Nuclear Proteins
  • DNA