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

我们提出了一个试点项目，在这个项目中，我们将启动DNA连锁研究 已确定的家族性阿尔茨海默病家系 由阿尔茨海默病临床核心研究中心提出 对于贝勒医学院来说，这个核心已经诊断出许多 受影响的患者，其中相当多的人来自患有 疾病遗传的证据。这一群体代表着一个 应该发掘的宝贵资源，以增进我们的理解 这种疾病的危害。此外，由于分子理解和诊断 阿尔茨海默氏症的发生显然迫在眉睫，同样重要的是 实验室能够为临床提供最先进的服务 尽快建立核心及其患者。我们会 评估病例记录以选择具有最佳证据的15至20个家庭 阿尔茨海默病患者的遗传和所需人员的可用性 调查。初步的分子研究将测试两者之间的联系 该病的遗传和已知的21号染色体上的基因座位于 与发病年龄较早的一种疾病相关的基因。 随着其他标记的确定，它们将被应用于分析 我们的亲人。我们预计，这一试点项目将导致 在贝勒学院建立继续研究方案 阿尔茨海默病的分子分析医学 确定亲缘关系，作为加强 我们对阿尔茨海默病的认识，以及提供的分子 为当地病人提供服务。

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.