Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.
Nat Genet
; 4(3): 221-6, 1993 Jul.
Article
em En
| MEDLINE
| ID: mdl-8358429
ABSTRACT
Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant disorder characterized by neurodegeneration of the cerebellum, spinal cord and brainstem. A 1.2-Megabase stretch of DNA from the short arm of chromosome 6 containing the SCA1 locus was isolated in a yeast artificial chromosome contig and subcloned into cosmids. A highly polymorphic CAG repeat was identified in this region and was found to be unstable and expanded in individuals with SCA1. There is a direct correlation between the size of the (CAG)n repeat expansion and the age-of-onset of SCA1, with larger alleles occurring in juvenile cases. We also show that the repeat is present in a 10 kilobase mRNA transcript. SCA1 is therefore the fifth genetic disorder to display a mutational mechanism involving an unstable trinucleotide repeat.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Sequências Repetitivas de Ácido Nucleico
/
Degenerações Espinocerebelares
Limite:
Female
/
Humans
/
Male
Idioma:
En
Revista:
Nat Genet
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
1993
Tipo de documento:
Article