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亨廷顿病的预测性检测:I. 不列颠哥伦比亚省一个试点项目的描述。

Predictive testing for Huntington disease: I. Description of a pilot project in British Columbia.

作者信息

Fox S, Bloch M, Fahy M, Hayden M R

机构信息

Department of Medical Genetics, University of British Columbia, Vancouver, Canada.

出版信息

Am J Med Genet. 1989 Feb;32(2):211-6. doi: 10.1002/ajmg.1320320214.

Abstract

The discovery of DNA markers linked to the gene causing Huntington disease (HD) has allowed the development of predictive testing programs for persons at-risk. A pilot program was established in British Columbia in November 1986. Ninety-five persons are currently enrolled. The major objective of this project is to introduce and evaluate a protocol for the delivery of test results to persons at-risk for HD. The criteria for entry and details of the psychosocial assessment before and after receiving a modified risk are presented. The guidelines that are developed from this project will have major applications for predictive testing programs for other late onset autosomal dominant disorders.

摘要

与导致亨廷顿舞蹈病(HD)的基因相关的DNA标记物的发现,使得针对高危人群的预测性检测项目得以开展。1986年11月在不列颠哥伦比亚省启动了一个试点项目。目前有95人登记在册。该项目的主要目标是引入并评估一种向HD高危人群提供检测结果的方案。文中介绍了入组标准以及接受修正风险前后心理社会评估的细节。从该项目制定的指南将在其他晚发性常染色体显性疾病的预测性检测项目中具有重要应用。

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