Mutation analysis of Parkin, PINK1 and DJ-1 genes in Chinese patients with sporadic early onset parkinsonism.
J Neurol
; 257(7): 1170-5, 2010 Jul.
Article
en En
| MEDLINE
| ID: mdl-20146068
Early onset parkinsonism (EOP) has been associated with mutations in the Parkin, PINK1, and DJ-1 genes. We studied the prevalence of mutations in all three genes in 127 unrelated Chinese patients with apparently sporadic EOP using direct sequencing analysis and real-time quantitative PCR analysis assay. There are 16 patients (12.6%) with mutations of Parkin gene, four patients (3.1%) with mutations of PINK1 gene, and three patients (2.4%) with mutation of DJ-1 gene. In conclusion, Parkin gene mutation is the most common pathogenic factor in Chinese patients with sporadic EOP. Mutations of DJ-1 and PINK1 gene are also found in Chinese patients with sporadic EOP.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Enfermedad de Parkinson
/
Proteínas Quinasas
/
Proteínas Oncogénicas
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Predisposición Genética a la Enfermedad
/
Ubiquitina-Proteína Ligasas
/
Péptidos y Proteínas de Señalización Intracelular
/
Mutación
Tipo de estudio:
Prognostic_studies
/
Risk_factors_studies
Límite:
Adult
/
Female
/
Humans
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Male
/
Middle aged
País/Región como asunto:
Asia
Idioma:
En
Revista:
J Neurol
Año:
2010
Tipo del documento:
Article
Pais de publicación:
Alemania