[Study of the association of genotype and phenotype features of the pathogenesis of Huntington's chorea].
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.
Hryshchenko
N V
NV
Kucherenko
A M
AM
Patskun
E I
EI
Livshyts'
L A
LA
D000328:Adult; D017668:Age of Onset; D004247:DNA / Q000235:genetics; D005787:Gene Frequency; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D000071058:Huntingtin Protein; D006816:Huntington Disease / Q000453:epidemiology / Q000235:genetics*; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D016133:Polymerase Chain Reaction; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*; D014455:Ukraine / Q000453:epidemiology
C086055:HTT protein, human; D000071058:Huntingtin Protein; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; D004247:DNA