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提瑞西阿斯综合征:亨廷顿舞蹈病作为迟发性疾病检测的范例

The Tiresias complex: Huntington's disease as a paradigm of testing for late-onset disorders.

作者信息

Wexler N S

机构信息

Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York 10032.

出版信息

FASEB J. 1992 Jul;6(10):2820-5. doi: 10.1096/fasebj.6.10.1386047.

Abstract

Huntington's disease represents the first disorder for which positional cloning techniques successfully localized an autosomal gene--in 1983. Events since that time have proved the gene recalcitrant to identification and characterization. Since 1986, presymptomatic and prenatal testing for Huntington's disease has been available internationally, although on a limited basis. Testing for Huntington's disease provides an excellent model for designing service programs for genetic testing for late-onset, fatal disorders, particularly when the gene is not yet in hand and no therapeutic intervention is possible. Special training and precautions must be in place before presymptomatic genetic testing should be offered.

摘要

亨廷顿舞蹈症是首例通过定位克隆技术成功定位常染色体基因的疾病——于1983年实现。从那时起的一系列事件证明,该基因难以识别和表征。自1986年以来,亨廷顿舞蹈症的症状前检测和产前检测已在国际上开展,尽管范围有限。亨廷顿舞蹈症检测为设计迟发性致命疾病的基因检测服务项目提供了一个绝佳范例,尤其是在基因尚未确定且无法进行治疗干预的情况下。在提供症状前基因检测之前,必须进行专门培训并采取预防措施。

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