title: [Analysis of deletion mutations in the PARK2 gene in idiopathic Parkinson's disease].
abstract: A method for analysis of deletions and duplications of individual exons and groups of exons in the parkin gene (PARK2) in both homozygous and heterozygous states has been developed. The method is based on semiquantitative polymerase chain reaction (PCR). The method has been used for analysis of the frequency of deletions in gene PARK2 in patients with idiopathic Parkinson's disease from Bashkortostan. Two unrelated patients have been found to carry a deletion of the 12th (last) exon of gene PARK2. Possibly, this deletion has caused the disease in the given patients.
authors.affiliation: Institute of Molecular Genetics, Russian Academy of Sciences, Moscow, 123182 Russia. slomin@ras.ru
authors.forename: P A
authors.initials: PA
authors.lastname: Slominskiĭ
authors.forename: O V
authors.initials: OV
authors.lastname: Miloserdova
authors.forename: S N
authors.initials: SN
authors.lastname: Popova
authors.forename: I R
authors.initials: IR
authors.lastname: Giliazova
authors.forename: I V
authors.initials: IV
authors.lastname: Khidiiatova
authors.forename: R V
authors.initials: RV
authors.lastname: Magzhanov
authors.forename: E K
authors.initials: EK
authors.lastname: Khusnutdinova
authors.forename: S A
authors.initials: SA
authors.lastname: Limborskaia
mesh_terms: D001486:Bashkiria; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D006579:Heterozygote; D006801:Humans; D007090:Image Interpretation, Computer-Assisted; D008025:Ligases / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000209:etiology / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods; D017384:Sequence Deletion; D044767:Ubiquitin-Protein Ligases
chemical_list: D044767:Ubiquitin-Protein Ligases; C111567:parkin protein; D008025:Ligases