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

我们建议进行一项试验计划，进行DNA连锁研究 对于已经确定的家族性阿尔茨海默病的家系， 由阿尔茨海默病研究中心的临床核心提出， 对于贝勒医学院来说，这个核心已经诊断了许多 受影响的病人，其中相当一部分来自家庭， 这是遗传疾病的证据。这一群体代表了 我们应该探索这一宝贵资源， 疾病。此外，由于分子理解和诊断 老年痴呆症显然迫在眉睫，同样重要的是， 实验室能够为临床提供最先进的服务 尽快建立核心和它的病人。我们将 评估病例记录，选择15至20个证据最好的家庭 老年痴呆症的继承和提供这种需要的人 调查事务所最初的分子研究将测试 遗传疾病和基因座上的21号染色体上已知是接近一个 与具有早期发病年龄的疾病形式相关的基因。 随着其他标志物的鉴定，它们将被应用于以下分析： 我们的亲戚我们预计，这一试点项目将导致 在贝勒大学建立一个持续的研究计划， 阿尔茨海默病的分子分析药物， 确定将成为提高 我们对老年痴呆症的了解，以及提供分子 为当地患者服务。

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.