RESUMEN

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.

Asunto(s)

Proteínas F-Box/genética , Trastornos Parkinsonianos/genética , Adulto , Edad de Inicio , Pueblo Asiatico , China , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Humanos , Mutación , Polimorfismo Genético