title: Molecular genetic analysis of the alpha-synuclein and the parkin gene in Parkinson's disease in Finland.
abstract: Two mutations in the alpha-synuclein gene and various mutations in the parkin gene are associated with familial Parkinson's disease (PD). The present study was performed to analyse if mutations in these genes could be detected in Finnish patients with familial PD. The subjects comprised 22 unrelated patients with familial PD. The molecular genetic analysis consisted of sequence analysis of the non-coding and coding exons of the alpha-synuclein gene and screening of eight point mutations in the parkin gene. In addition, a total of 67 controls and 45 patients with sporadic PD were included in the association analysis on polymorphism of the alpha-synuclein gene. Screened point mutations in the parkin gene were not detected. Sequencing of the coding exons 2-6 of the alpha-synuclein gene did not reveal any mutations or polymorphisms. However, three novel alterations in the T10A7 sequence at the 5' end of the non-coding exon 1' of the alpha-synuclein gene were found. The frequencies of the exon 1' polymorphic genotypes or alleles between familial PD patients and control subjects revealed no statistically significant differences. No association for sporadic PD was observed. The results do not support a role for the alpha-synuclein gene or point mutations of the parkin gene in familial PD in our sample.
authors.affiliation: Department of Neurology, University Hospital and University of Kuopio, Finland.
authors.forename: J M
authors.initials: JM
authors.lastname: Autere
authors.forename: M J
authors.initials: MJ
authors.lastname: Hiltunen
authors.forename: A J
authors.initials: AJ
authors.lastname: Mannermaa
authors.forename: P A
authors.initials: PA
authors.lastname: Jäkälä
authors.forename: P H
authors.initials: PH
authors.lastname: Hartikainen
authors.forename: K
authors.initials: K
authors.lastname: Majamaa
authors.forename: I
authors.initials: I
authors.lastname: Alafuzoff
authors.forename: H S
authors.initials: HS
authors.lastname: Soininen
mesh_terms: D000368:Aged; D001483:Base Sequence / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D005387:Finland; D005787:Gene Frequency / Q000235:genetics; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D008025:Ligases / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010300:Parkinson Disease / Q000235:genetics* / Q000503:physiopathology; D017354:Point Mutation / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics*; D051843:Synucleins; D044767:Ubiquitin-Protein Ligases; D051844:alpha-Synuclein
chemical_list: D009419:Nerve Tissue Proteins; C497604:SNCA protein, human; D051843:Synucleins; D051844:alpha-Synuclein; D044767:Ubiquitin-Protein Ligases; C111567:parkin protein; D008025:Ligases