PILOT STUDY--ANALYSIS OF FAMILIAL ALZHEIMER'S DISEASE BY DNA LINKAGE

试点研究--通过DNA连锁分析家族性阿尔茨海默病

• 批准号: 3790310
• 负责人: C THOMAS CASKEY
• 金额: --
• 依托单位: BAYLOR COLLEGE OF MEDICINE
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/3790310
• 关键词: Alzheimer's disease; gel electrophoresis; genetic markers; human genetic material tag; human population genetics; human subject; linkage mapping; lymphoblast; molecular cloning; nucleic acid probes; tissue /cell culture

We propose a pilot project in which we will initiate DNA linkage studies for pedigrees of familial Alzheimers disease that have been identified by the Clinical Core of the Alzheimers Disease Research Center proposed for Baylor College of Medicine, This Core has already diagnosed many affected patients, a significant number of whom come from families with evidence for inheritance of the disease. This population represents a valuable resource that should be explored to enhance our understanding of the disease. In addition, since molecular understanding and diagnosis of Alzheimers is clearly imminent, it is also important that a laboratory able to provide state-of-the-art services to the Clinical Core and its patients be established as soon as possible. We will evaluate case records to select 15 to 20 families with the best evidence of Alzheimers inheritance and availability of persons required for such investigations. Initial molecular studies will test linkage between inheritance of the disease and loci on chromosome 21 known to be near a gene associated with a form of the disease having an early age of onset. As other markers are identified they will be applied to the analysis of our kindreds. We anticipate that this pilot project will lead to the establishment of a continuing research program at Baylor College of Medicine for the molecular analysis of Alzheimers disease, the identification of kindreds that will be valuable resources for enhancing our understanding of Alzheimers disease, and the provision of molecular services to local patients.

我们提出了一个试点项目，我们将启动DNA链接研究 对于已鉴定出的家族性阿尔茨海默氏病的血统 由阿尔茨海默氏病研究中心的临床核心提出 对于贝勒医学院，该核心已经诊断出许多 受影响的患者，其中大量来自 遗传疾病的证据。这个人口代表 应该探索的宝贵资源以增强我们的理解 疾病。另外，由于分子理解和诊断 阿尔茨海默氏症显然是迫在眉睫的，同样重要的是 实验室能够为临床提供最先进的服务 尽快建立核心及其患者。我们将 评估案例记录，以选择15至20个家庭有最好的证据 阿尔茨海默氏症的继承和可用性 调查。最初的分子研究将测试 疾病的遗传和基因座在21染色体上已知近地 与这种疾病形式相关的基因具有很小的发病年龄。 由于确定了其他标记，它们将应用于分析 我们的亲戚。我们预计这个试点项目将导致 在贝勒学院建立一项持续研究计划 阿尔茨海默氏病分子分析的医学， 识别将是增强资源的宝贵资源 我们对阿尔茨海默氏病的理解以及分子的提供 为当地患者提供服务。