CORE--GENETIC COUNSELING AND TESTING

这个核心的目的是开发一个遗传基因的模型程序 对阿尔茨海默病患者及其家人的咨询和测试。近期 遗传学的进步扩大了我们对基因的认识。 阿尔茨海默病(AD)和患者和 他们的家人。19号染色体参与的先前证据 在晚发性阿尔茨海默病中，有一个显著的发现证实了这一点 载脂蛋白E(ApoE)基因座与阿尔茨海默病的相关性研究 研究还表明，1-抗凝乳糖胰蛋白酶(ACT)可以赋予显著的 AD的风险以及与ApoE的积极结合。三大基因 占90%的早发性常染色体显性AD也有 被发现了。 阿尔茨海默病的基因检测可能对数百万人有利 阿尔茨海默病的受AD影响或有患AD风险的对于受影响的个人，测试 ApoE/ACT联合检测有助于AD的诊断 以及在选择治疗方案时。适合早发高危人士 AD，预测性基因测试现在可以在很高的程度上 精确度。然而，未知的是，这群人的反应 消费者对这些新的选择。 将为所有患者及其家属提供遗传咨询。 被诊断为可能患有或可能患有AD的患者将接受 APOE/ACT作为他们在临床核心的基本工作的一部分。 将开始对AD高危人群进行症状前测试 遵循的是根据亨廷顿病制定的方案改编的方案。 这项协议将包括遗传咨询，心理筛查， 前测咨询和后续跟进。

The purpose of this core is to develop a model program for the genetic counseling and testing of Alzheimer patients and their families. Recent genetic advances have expanded our knowledge about the genetics of Alzheimer disease (AD) and the genetic testing options for patients and their families. Previous evidence of the involvement of chromosome 19 in late onset AD has been confirmed by the finding of a significant association between AD and the apolipoprotein E (Apo-E) locus. Research has also shown that 1-antichymotrypsin (ACT) may confer a significant risk for AD as well as active conjunction with ApoE. Three major genes accounting for up to 90% of early onset autosomal dominant AD have also been discovered. Genetic testing for AD may prove beneficial to millions of individuals affected by, or at risk for, AD. For affected individuals, testing for the combination of ApoE/ACT may help in clarifying the diagnosis of AD and in choosing treatment options. For persons at risk for early onset AD, predictive genetic testing is now possible with a high degrees of accuracy. What is unknown, however, is the response of this group of consumers to these new options. Genetic counseling will be offered to all patients and their families. Patients diagnosed with probable or possible AD will be tested for ApoE/ACT as part of their basic workup in the clinical core. Presymptomatic testing of individuals at risk for AD will be initiated following a protocol adapted from those developed for Huntington disease. This protocol will include genetic counseling, psychological screening, pretest counseling and followup.