Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion.
Nat Genet
; 17(1): 65-70, 1997 Sep.
Article
en En
| MEDLINE
| ID: mdl-9288099
ABSTRACT
The gene for spinocerebellar ataxia 7 (SCA7) has been mapped to chromosome 3p12-13. By positional cloning, we have identified a new gene of unknown function containing a CAG repeat that is expanded in SCA7 patients. On mutated alleles, CAG repeat size is highly variable, ranging from 38 to 130 repeats, whereas on normal alleles it ranges from 7 to 17 repeats. Gonadal instability in SCA7 is greater than that observed in any of the seven known neuro-degenerative diseases caused by translated CAG repeat expansions, and is markedly associated with paternal transmissions. SCA7 is the first such disorder in which the degenerative process also affects the retina.
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Bases de datos:
MEDLINE
Asunto principal:
Cromosomas Humanos Par 3
/
Degeneraciones Espinocerebelosas
/
Repeticiones de Trinucleótidos
/
Proteínas del Tejido Nervioso
Tipo de estudio:
Prognostic_studies
Límite:
Adult
/
Aged
/
Female
/
Humans
/
Male
/
Middle aged
Idioma:
En
Revista:
Nat Genet
Asunto de la revista:
GENETICA MEDICA
Año:
1997
Tipo del documento:
Article
País de afiliación:
Francia