FBXO7 gene mutations may be rare in Chinese early-onset Parkinsonism patients

被引：12
|
作者：
Luo, Lin-zi [1 ]
Xu, Qian [1 ]
Guo, Ji-feng [1 ,2 ]
Wang, Lei [1 ]
Shi, Chang-he [1 ]
Wei, Jiao-hua [1 ]
Long, Zhi-gao [3 ]
Pan, Qian [3 ]
Tang, Bei-sha [1 ,2 ]
Xia, Kun [3 ]
Yan, Xin-xiang [1 ,2 ]
机构：
[1] Cent S Univ, Dept Neurol, Xiangya Hosp, Changsha 410008, Hunan, Peoples R China
[2] Cent S Univ, Neurodegenerat Disorders Res Centrer, Changsha 410008, Hunan, Peoples R China
[3] Natl Lab Med Genet China, Changsha 410008, Hunan, Peoples R China
来源：
NEUROSCIENCE LETTERS | 2010年 / 482卷 / 02期
基金：
中国国家自然科学基金;
关键词：
Early-onset Parkinsonism; FBXO7; gene; PARK15; Gene mutation; Pallido-Pyramidal Disease; PALLIDO-PYRAMIDAL SYNDROME; F-BOX; DISEASE; LEVODOPA; ATP13A2; PINK1; DJ-1;
D O I：
10.1016/j.neulet.2010.06.083
中图分类号：
Q189 [神经科学];
学科分类号：
071006 ;
摘要：
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.
引用
收藏
页码：86 / 89
页数：4
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