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

页码：86 / 89

页数：4

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