title: [Analysis of the alpha-synuclein gene dosage variation associated with autosomal dominant form of ParkinsonTs disease].
abstract: Fifty-two patients that had ParkinsonTs disease with autosomal dominant type of inheritance were analyzed for the presence of duplications and triplications in exons 4--6 of alpha-synuclein gene using real-time PCR with Taq-Man probes. No mutations involving the examined exons dosage were revealed in alpha-synuclein gene. Thus, mutations modifying copy number of alpha-synuclein gene do not significantly affect the pathogenesis of the autosomal dominant form of ParkinsonTs disease in patients from Russia.
authors.forename: E V
authors.initials: EV
authors.lastname: Semenova
authors.forename: M I
authors.initials: MI
authors.lastname: Shadrina
authors.forename: P A
authors.initials: PA
authors.lastname: Slominskiĭ
authors.forename: S N
authors.initials: SN
authors.lastname: Illarioshkin
authors.forename: G Kh
authors.initials: GKh
authors.lastname: Bagyeva
authors.forename: A V
authors.initials: AV
authors.lastname: Karabanov
authors.forename: I A
authors.initials: IA
authors.lastname: Ivanova-Smolenskaia
authors.forename: S A
authors.initials: SA
authors.lastname: Limborskaia
mesh_terms: D005091:Exons / Q000235:genetics*; D005260:Female; D018628:Gene Dosage; D006801:Humans; D008297:Male; D020734:Parkinsonian Disorders / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods; D012426:Russia; D051844:alpha-Synuclein / Q000235:genetics*
chemical_list: D051844:alpha-Synuclein