| Literature DB >> 20603184 |
Lin-zi Luo1, Qian Xu, Ji-feng Guo, Lei Wang, Chang-he Shi, Jiao-hua Wei, Zhi-gao Long, Qian Pan, Bei-sha Tang, Kun Xia, Xin-xiang Yan.
Abstract
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. (c) 2010 Elsevier Ireland Ltd. All rights reserved.Entities:
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Year: 2010 PMID: 20603184 DOI: 10.1016/j.neulet.2010.06.083
Source DB: PubMed Journal: Neurosci Lett ISSN: 0304-3940 Impact factor: 3.046