An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)
An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)
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DOI：
10.1038/7710
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发表时间：
1999-04-01
期刊：
影响因子：
30.8
通讯作者：
Ranum, LPW
中科院分区：
文献类型：
--
作者：
Koob, MD;Moseley, ML;Ranum, LPW
强直性肌营养不良（DM）是唯一的疾病报告引起的CTG扩增。我们现在报告，一个非编码CTC扩展导致一种新形式的脊髓小脑共济失调（SCA 8）。该扩增位于染色体13 q21上，通过RAPID克隆直接从共济失调患者的基因组DNA中分离。SCA 8患者具有与成人发病DM患者中发现的那些相似的大小的扩增（107-127个CTG重复）。SCA 8是第一个不是由翻译为多聚谷氨酰胺束的CAG扩增引起的显性SCA的例子。
Myotonic dystrophy (DM) is the only disease reported to be caused by a CTG expansion. We now report that a non-coding CTC expansion causes a novel form of spinocerebellar ataxia (SCA8). This expansion, located on chromosome 13q21, was isolated directly from the genomic DNA of an ataxia patient by RAPID cloning. SCA8 patients have expansions similar in size (107-127 CTG repeats) to those found among adult-onset DM patients. SCA8 is the first example of a dominant SCA not caused by a CAG expansion translated as a polyglutamine tract.