Independent occurrence of I2020T mutation in the kinase domain of the leucine rich repeat kinase 2 gene in Japanese and German Parkinson's disease families.
Neurosci Lett
; 417(1): 21-3, 2007 Apr 24.
Article
em En
| MEDLINE
| ID: mdl-17395370
ABSTRACT
To understand the genetic origin of I2020T mutation in the kinase domain of leucine rich repeat kinase 2 (LRRK2), we investigated the original PARK8 Japanese family (Sagamihara family) and a German family (family 32), both of which were found to harbor I2020T as the causal mutation for autosomal dominant familial Parkinson's disease (PD). Microsatellite-haplotype analysis around the LRRK2 gene indicated that the mutation-carrying haplotypes of the two families were distinct from each other. This indicated that the I2020T mutation, an essential pathogenic mutation of PARK8-related PD, had occurred independently in the two PD families.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doença de Parkinson
/
Proteínas Serina-Treonina Quinases
/
Predisposição Genética para Doença
/
Mutação
Limite:
Adult
/
Aged
/
Female
/
Humans
/
Male
/
Middle aged
País/Região como assunto:
Asia
/
Europa
Idioma:
En
Ano de publicação:
2007
Tipo de documento:
Article