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Neurosci Lett ; 482(2): 86-9, 2010 Sep 27.
Artigo em Inglês | MEDLINE | ID: mdl-20603184

RESUMO

A recent study has shown that FBXO7 is a causative gene for PARK15-linked autosomal recessive early-onset Parkinsonism which was described by Davison for the first time in 1954 and known as Pallido-Pyramidal Disease or Parkinsonia-Pyramidal Syndrome in the past. In order to investigate the characteristics of FBXO7 gene mutations in Chinese early-onset Parkinsonism patients, we performed polymerase chain reaction and DNA direct sequencing on 135 patients and 200 controls. In this study, we found 10 polymorphisms including two novel polymorphisms (-274G-->C, c.A155G), but no pathogenetic mutations in the FBXO7 gene were detected. This suggests that FBXO7 mutations may be rare in Chinese early-onset Parkinsonism patients.


Assuntos
Proteínas F-Box/genética , Transtornos Parkinsonianos/genética , Adulto , Idade de Início , Povo Asiático , China , Estudos de Associação Genética , Predisposição Genética para Doença , Humanos , Mutação , Polimorfismo Genético
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