title: [Molecular genetic testing in the diagnosis of sporadic cases of Huntington's chorea].
abstract: Huntington's disease is characterized by autosomal dominant transmission and a complete penetrance of the mutant gene. Mutation in Huntington's disease consists in expansion of the unstable tandem CAG-trinucleotide repeats. This discovery allowed to perform a precise DNA diagnosis of the mutant gene carriers. Direct DNA diagnosis has a special importance in sporadic cases of the disease. We performed direct DNA diagnosis in 4 patients with sporadic choreic hyperkinesis, and elaborated a modified protocol for DNA amplification. The obtained results are discussed from the viewpoint of current knowledge about the nature of the Huntington's disease gene.
authors.forename: I A
authors.initials: IA
authors.lastname: Ivanova-Smolenskaia
authors.forename: I V
authors.initials: IV
authors.lastname: Ovchinnikov
authors.forename: S N
authors.initials: SN
authors.lastname: Illarioshkin
authors.forename: E D
authors.initials: ED
authors.lastname: Markova
authors.forename: S A
authors.initials: SA
authors.lastname: Kliushnikov
authors.forename: N N
authors.initials: NN
authors.lastname: Nikol'skaia
authors.forename: N I
authors.initials: NI
authors.lastname: Miklina
mesh_terms: D000368:Aged; D000483:Alleles; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics; D004247:DNA / Q000097:blood / Q000235:genetics; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D006816:Huntington Disease / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D008875:Middle Aged; D021141:Nucleic Acid Amplification Techniques
chemical_list: D004247:DNA
vernacular_title: Molekuliarno-geneticheskoe testirovanie v diagnostike sporadicheskikh sluchaev khorei Gentingtona.