[Analysis of the alpha-synuclein gene dosage variation associated with autosomal dominant form of ParkinsonTs disease].
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.
Semenova
E V
EV
Shadrina
M I
MI
Slominskiĭ
P A
PA
Illarioshkin
S N
SN
Bagyeva
G Kh
GKh
Karabanov
A V
AV
Ivanova-Smolenskaia
I A
IA
Limborskaia
S A
SA
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*
D051844:alpha-Synuclein