FBXO7 gene mutations may be rare in Chinese early-onset Parkinsonism patients
FBXO7 gene mutations may be rare in Chinese early-onset Parkinsonism patients
复制标题
FBXO7基因突变在中国早发帕金森病患者中可能罕见
DOI：
10.1016/j.neulet.2010.06.083
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发表时间：
2010-09-27
影响因子：
2.5
通讯作者：
Yan, Xin-xiang
中科院分区：
文献类型：
--
作者：
Luo, Lin-zi;Xu, Qian;Yan, Xin-xiang
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.
