GENETIC LINKAGE TEST FOR HUNTINGTON DISEASE

亨廷顿病(HD)是一种进行性、神经退行性疾病 以常染色体显性遗传方式遗传。临床症状一般是 直到生命的第三到第五个十年才表现出来。这样做的目的是 项目是开发一种针对症状前和非症状患者的基因连锁测试 先天性巨结肠产前诊断。第二阶段将包括现场试验，以 利用遗传连锁对HD高危个体进行症状前检测 分析。高危个人将接受评估，以纳入 这项研究和适当的家系进行了HD连锁标记的单倍型。 在第一阶段制定的程序，用于管理作为 为多个院校提供服务的中央参考实验室将 在第二阶段进行评估，解决其他关键要素的协议也将进行评估 与管理寻址其他人的遗传连锁有关 与基因连锁管理相关的关键要素 HD测试(心理社会咨询、机构认可等)。

Huntington's Disease (HD) is a progressive, neurodegenerative disorder inherited in an autosomal dominant mode. Clinical symptoms are generally not manifested until the third to fifth decade of life. The goal of this project is to develop a genetic linkage test for the presymptomatic and prenatal diagnosis of HD. Phase II will consist of a field trial for the presymptomatic testing of individuals at-risk for HD using genetic linkage analysis. Individuals at-risk for HD will be evaluated for inclusion in the study, and appropriate families haplotyped for the HD-linked markers. Procedures developed in Phase I to manage the logistics of serving as a central reference laboratory serving a number of institutions will be evaluated in Phase II, as will protocols addressing other critical elements associated with the administration of a genetic linkage addressing other critical elements associated with the administration of a genetic linkage test for HD (psychosocial counseling, institutional approval etc.).