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利用 BITOLA 系统鉴定帕金森病的候选基因。

Using the BITOLA system to identify candidate genes for Parkinson's disease.

机构信息

Division of Genetics, University of Tuzla, Bosnia and Herzegovina.

出版信息

Bosn J Basic Med Sci. 2011 Aug;11(3):185-9. doi: 10.17305/bjbms.2011.2572.

Abstract

Complexity of multifactorial diseases as Parkinson's disease (PD) often complicate identifying causal genetic factors by traditional approaches such as positional cloning and candidate gene analyses. PD is etiologically and genetically complex disease and second most common neurodegenerative disorder after Alzheimer's disease. The most cases of PD are idiopathic and small growing subset of individuals have single gene defect as the cause. The main goal of this research was to identify the potential candidate genes for idiopathic PD by using biomedical discovery support system (BITOLA). For detecting the potential candidate genes for PD was used opened system of bioinformatics tool BITOLA. Data of chromosome location, tissue specific expression of potential candidate genes and their potential association with PD were obtained from Medline, Locus Link, Gene Cards and OMIM. By using BITOLA system is identified 17 genes as potential candidate genes for PD. The role of three genes (MAPT, PARK2, UCHL1) in PD were confirmed earlier. Discovering the novel candidate genes for multifactiorial diseases by using specially mentioned bioinformatics tool BITOLA could offer the new opportunity for researching genetics base of PD without using tissue samples of patients.

摘要

复杂性的多因素疾病如帕金森病(PD)往往使识别因果遗传因素的传统方法复杂化,如定位克隆和候选基因分析。PD 是一种病因和遗传复杂的疾病,是仅次于阿尔茨海默病的第二常见神经退行性疾病。大多数 PD 是特发性的,一小部分个体有单一基因缺陷作为病因。本研究的主要目的是通过生物医学发现支持系统(BITOLA)识别特发性 PD 的潜在候选基因。为了检测 PD 的潜在候选基因,使用了开放的生物信息学工具 BITOLA 系统。从 Medline、Locus Link、Gene Cards 和 OMIM 中获得了候选基因的染色体位置、组织特异性表达及其与 PD 的潜在关联的数据。通过使用 BITOLA 系统,确定了 17 个基因作为 PD 的潜在候选基因。三个基因(MAPT、PARK2、UCHL1)在 PD 中的作用已被证实。使用特别提到的生物信息学工具 BITOLA 发现多因素疾病的新候选基因,可以为研究 PD 的遗传基础提供新的机会,而无需使用患者的组织样本。

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