A novel polymorphic triplet repeat in intron five of the alpha-synuclein gene: no evidence of expansion or allelic association with idiopathic Parkinson's disease in the Irish.
Neuroreport
; 13(13): 1621-5, 2002 Sep 16.
Article
em En
| MEDLINE
| ID: mdl-12352614
ABSTRACT
The recent discovery of two mutations associated with autosomal dominant Parkinson's disease (PD) has led to the hypothesis that the alpha-synuclein gene plays a role in the pathogenesis of PD. Here we report a novel triplet CAA repeat within the unusually large intron 5 sequence of the alpha-synuclein gene. Microsatellite analysis revealed a high degree of polymorphism within the Irish population with seven alleles detected, ranging from eight to 17 CAA repeats. Analysis of the allele/genotype frequency differences observed between an Irish idiopathic PD cohort (eta = 98) and a healthy aged control group ( eta= 92) revealed no strong association with either group. All PD subjects displaying homozygous profiles were examined for expansion of the trinucleotide repeat, but no expansion was observed. These results would suggest that polymorphism of the alpha-synuclein gene may not play as significant a role in the pathogenesis of idiopathic PD as previously hypothesised.
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Base de dados:
MEDLINE
Assunto principal:
Doença de Parkinson
/
Polimorfismo Genético
/
Química Encefálica
/
Repetições de Trinucleotídeos
/
Expansão das Repetições de Trinucleotídeos
/
Frequência do Gene
/
Proteínas do Tecido Nervoso
Tipo de estudo:
Risk_factors_studies
Limite:
Adult
/
Aged
/
Aged80
/
Female
/
Humans
/
Male
/
Middle aged
País/Região como assunto:
Europa
Idioma:
En
Revista:
Neuroreport
Assunto da revista:
NEUROLOGIA
Ano de publicação:
2002
Tipo de documento:
Article
País de afiliação:
Reino Unido