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MDPD:帕金森病的综合遗传信息资源。

MDPD: an integrated genetic information resource for Parkinson's disease.

作者信息

Tang Suisheng, Zhang Zhuo, Kavitha Gopalakrishnan, Tan Eng-King, Ng See Kiong

机构信息

Data Mining Department, Institute for Infocomm Research, Agency for Science, Technology and Research (A*STAR) and Department of Neurology, Singapore General Hospital, Singapore.

出版信息

Nucleic Acids Res. 2009 Jan;37(Database issue):D858-62. doi: 10.1093/nar/gkn770. Epub 2008 Oct 23.

Abstract

Parkinson's disease (PD) is the second most common neurodegenerative disorder affecting millions of people. Both environmental and genetic factors play important roles in its causation and development. Genetic analysis has shown that over 100 genes are correlated with the etiology and pathology of PD. However, accessing genetic information in a consistent and fruitful way is not an easy task. The Mutation Database for Parkinson's Disease (MDPD) is designed to fulfill the need for information integration so that users can easily retrieve, inspect and enhance their knowledge on PD. The database contains 2391 entries on 202 genes extracted from 576 publications and manually examined by biomedical researchers. Each genetic substitution and the resulting impact are clearly labelled and linked to its primary reference. Every reported gene has a summary page that provides information on the variation impact, mutation type, the studied population, mutation position and reference collection. In addition, MDPD provides a unique functionality for users to compare the differences on the type of mutations among ethnic groups. As such, we hope that MDPD will serve as a valuable tool to bridge the gap between genetic analysis and clinical practice. MDPD is publicly accessible at http://datam.i2r.a-star.edu.sg/mdpd/.

摘要

帕金森病(PD)是第二常见的神经退行性疾病,影响着数百万人。环境和遗传因素在其病因和发展过程中都起着重要作用。基因分析表明,超过100个基因与帕金森病的病因和病理相关。然而,以一致且富有成效的方式获取基因信息并非易事。帕金森病突变数据库(MDPD)旨在满足信息整合的需求,以便用户能够轻松检索、查阅并增进对帕金森病的了解。该数据库包含从576篇出版物中提取的202个基因的2391条记录,并经过生物医学研究人员的人工审核。每个基因替代及其产生的影响都有明确标注,并与原始参考文献相关联。每个报告的基因都有一个摘要页面,提供有关变异影响、突变类型、研究人群、突变位置和参考文献集的信息。此外,MDPD为用户提供了一项独特功能,可比较不同种族之间突变类型的差异。因此,我们希望MDPD能成为弥合基因分析与临床实践之间差距的宝贵工具。可通过http://datam.i2r.a-star.edu.sg/mdpd/公开访问MDPD。

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本文引用的文献

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Exploring gene-environment interactions in Parkinson's disease.探索帕金森病中的基因-环境相互作用。
Hum Genet. 2008 Apr;123(3):257-65. doi: 10.1007/s00439-008-0466-z. Epub 2008 Jan 22.
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Nucleic Acids Res. 2008 Jan;36(Database issue):D25-30. doi: 10.1093/nar/gkm929. Epub 2007 Dec 11.
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J Neurol Sci. 2007 Nov 15;262(1-2):37-44. doi: 10.1016/j.jns.2007.06.024. Epub 2007 Jul 27.
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