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基因检测确诊五个非洲家庭患有亨廷顿舞蹈症。

Huntington's disease confirmed by genetic testing in five African families.

作者信息

Silber E, Kromberg J, Temlett J A, Krause A, Saffer D

机构信息

Department of Human Genetics, School of Pathology, South African Institute for Medical Research and University of the Witwatersrand.

出版信息

Mov Disord. 1998 Jul;13(4):726-30. doi: 10.1002/mds.870130420.

Abstract

Huntington's disease is an autosomal-dominant inherited progressive neurodegenerative disease associated with an expanded trinucleotide repeat (CAG) sequence on the short arm of chromosome 4. The disease is considered rare in Africans. We report five black South African families of different ethnic origin with proven expansions typical of Huntington's disease and discuss the possible origins of the disease in Africa.

摘要

亨廷顿舞蹈症是一种常染色体显性遗传的进行性神经退行性疾病,与4号染色体短臂上一个扩展的三核苷酸重复序列(CAG)有关。该疾病在非洲人中被认为较为罕见。我们报告了五个来自不同种族的南非黑人家庭,这些家庭被证实具有典型的亨廷顿舞蹈症扩展序列,并讨论了该疾病在非洲可能的起源。

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