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Exonic sequencing revealed no causative mutation in the BST1 gene in patients with Parkinson's disease

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机构： [a]Department of Neurobiology, Beijing Institute of Geriatrics, Xuanwu Hospital, Capital Medical University, Beijing, China [b]Department of Neurology, Beijing Institute of Geriatrics, Xuanwu Hospital, Capital Medical University, Beijing, China [c]Key Laboratory on Neurodegenerative Disease of Ministry of Education, Beijing, China [d]Key Laboratory on Parkinson’s Disease of Beijing, Beijing, China [e]Department of Neurology, The Affiliated Sanming First Hospital, Fujian Medical University, Sanming, Fujian, China [f]National Human Genome Center in Beijing, Beijing Economic-Technological Development Zone, Beijing, China

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关键词： Parkinson's disease BST1 Mutation

摘要：

Genome-wide association and large-scale replication studies have linked Parkinson's disease (PD) to a locus on 4p15 encompassing a single gene encoding bone marrow stromal cell antigen 1 (BST1). To screen for causative mutations of BST1 in PD, we have directly sequenced all the 9 exons of BST1 in a Chinese cohort consisting of 524 PD cases and 527 controls. As a result, 6 known and 1 novel single-nucleotide polymorphisms (SNPs) were identified in exons 1, 3, 4, 7, and 9. However, none of these SNPs were associated with PD. The data, together with previous reports, suggested that the association between BST1 and PD might be determined by the noncoding sequences of the gene. (C) 2013 Elsevier Inc. All rights reserved.

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出版当年[2012]版：

大类 | 1 区

医学

小类 | 2 区老年医学 2 区神经科学

最新[2025]版：

大类 | 3 区医学

小类 | 3 区老年医学 3 区神经科学

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出版当年[2011]版：

Q1 GERIATRICS & GERONTOLOGY Q1 NEUROSCIENCES

最新[2024]版：

Q2 GERIATRICS & GERONTOLOGY Q2 NEUROSCIENCES

影响因子： 3.5 最新[2024版] 4.1 最新五年平均 6.189 出版当年[2011版] 5.874 出版当年五年平均 6.634 出版前一年[2010版] 6.166 出版后一年[2012版]

第一作者：

第一作者机构： [a]Department of Neurobiology, Beijing Institute of Geriatrics, Xuanwu Hospital, Capital Medical University, Beijing, China [b]Department of Neurology, Beijing Institute of Geriatrics, Xuanwu Hospital, Capital Medical University, Beijing, China [c]Key Laboratory on Neurodegenerative Disease of Ministry of Education, Beijing, China [d]Key Laboratory on Parkinson’s Disease of Beijing, Beijing, China [e]Department of Neurology, The Affiliated Sanming First Hospital, Fujian Medical University, Sanming, Fujian, China

通讯作者：

通讯机构： [*1]Department of Neurobiology & Neurology, Xuanwu Hospital, Capital Medical University, #45 Changchun Street, 100053 Beijing, China.

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Exonic sequencing revealed no causative mutation in the BST1 gene in patients with Parkinson's disease

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