Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, PR China.
Neurosci Lett. 2010 Sep 27;482(2):86-9. doi: 10.1016/j.neulet.2010.06.083. Epub 2010 Jul 14.
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.
最近的一项研究表明,FBXO7 是 PARK15 连锁常染色体隐性早发性帕金森病的致病基因,该疾病由 Davison 于 1954 年首次描述,并在过去被称为苍白球-锥体束疾病或帕金森-锥体综合征。为了研究 FBXO7 基因突变在中国早发性帕金森病患者中的特征,我们对 135 例患者和 200 例对照进行了聚合酶链反应和 DNA 直接测序。在这项研究中,我们发现了 10 种多态性,包括两种新的多态性(-274G-->C,c.A155G),但未在 FBXO7 基因中检测到致病突变。这表明 FBXO7 突变在中国早发性帕金森病患者中可能较为罕见。