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良性遗传性舞蹈病基因与亨廷顿病基因座的排除性定位:一个家系报告

Exclusion mapping of the benign hereditary chorea gene from the Huntington's disease locus: report of a family.

作者信息

Yapijakis C, Kapaki E, Zournas C, Rentzos M, Loukopoulos D, Papageorgiou C

机构信息

Department of Neurology, Athens University, Eginition Hospital, Greece.

出版信息

Clin Genet. 1995 Mar;47(3):133-8. doi: 10.1111/j.1399-0004.1995.tb03945.x.

Abstract

A Greek family is presented in which seven members suffered from benign hereditary chorea (a rare autosomal dominant non-progressive chorea without dementia). All patients and three informative healthy relatives were submitted to DNA analysis using probes from loci linked to Huntington's disease. The results confirm one previous suggestion that these two disorders are not allelic and that they should be considered as two distinct genetic entities.

摘要

本文介绍了一个希腊家庭,其中七名成员患有良性遗传性舞蹈病(一种罕见的常染色体显性非进行性舞蹈病,无痴呆症状)。所有患者和三名信息充足的健康亲属都使用与亨廷顿舞蹈病相关位点的探针进行了DNA分析。结果证实了之前的一个观点,即这两种疾病并非等位基因所致,应被视为两种不同的遗传实体。

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