亨廷顿舞蹈病的症状前检测：一项全球调查。世界神经病学联合会亨廷顿舞蹈病研究小组
Presymptomatic testing for Huntington's disease: a world wide survey. The World Federation of Neurology Research Group on Huntington's Disease.
出版信息
J Med Genet. 1993 Dec;30(12):1020-2. doi: 10.1136/jmg.30.12.1020.
Abstract
World wide data on presymptomatic testing for Huntington's disease using closely linked DNA markers show that 1479 persons at risk received completed test results up to the end of 1991. Testing has been carried out in 19 countries, with at least 88 centres involved, and numbers have levelled off after a peak in 1990. Only 5% of those at risk have been tested in six countries with the longest established programmes. Continued monitoring of international data will be of value in assessing the spread and impact of genetic testing, not only for Huntington's disease, but for other serious genetic disorders of later life.
摘要
全球范围内使用紧密连锁DNA标记对亨廷顿舞蹈病进行症状前检测的数据表明，截至1991年底，有1479名有患病风险的人收到了完整的检测结果。检测已在19个国家开展，至少有88个中心参与其中，检测人数在1990年达到峰值后趋于平稳。在六个开展该检测项目时间最长的国家中，只有5%有患病风险的人接受了检测。持续监测国际数据对于评估基因检测的传播和影响将具有重要价值，这不仅适用于亨廷顿舞蹈病，也适用于其他严重的老年遗传性疾病。
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