脊髓小脑性共济失调Ⅲ型的临床特点及分子遗传学特征
Journal of Naval General Hospital(2010)
Abstract
目的探讨脊髓小脑性共济失调Ⅲ型(SCA3)的临床特点及分子遗传学特征。方法采用聚合酶链反应-聚丙烯酰胺凝胶电泳(PCR-PAGE)技术,对一SCA3家系的8例中的3例患者行SCA3(CAG)n的重复数目分析,并对异常等位基因进行测序,同时分析SCA3患者的临床特征及家系调查。结果 3例患者(CAG)n重复数目为76、68、74次,而正常人群为1~40次。结论 SCA3是亚洲人种最常见的SCAs亚型,SCAs各亚型的临床表现相互重叠,其确诊有赖于基因诊断。
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Key words
Trinucleotide repeat expansions,Spinocerebellar ataxia Ⅲ
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