脊髓小脑共济失调1型中等重复动态突变患者临床表型分析  

Clinical analysis on the cases with intermediate Cytosine-Adenine-Guanine repeat alleles of spinocerebellar ataxia type 1

作　　者：顾卫红[1] 郝莹[1] 王晓工[1] 王康[1] 杜皓萍[1] 杨斯柳[1] 王国相[1] 

机构地区：[1]中日友好医院神经内科,北京100029

出　　处：《中日友好医院学报》2008年第2期83-86,共4页Journal of China-Japan Friendship Hospital

基　　金：卫生部临床学科重点项目(2004-2006)

摘　　要：目的:探讨脊髓小脑共济失调1型(SCA1)中等重复动态突变患者临床表型特征。方法:采用基于CEQ8000核酸分析仪的片段分析方法对2个表型为常染色体显性遗传脊髓小脑共济失调家系进行SCA1基因CAG重复序列突变检测,并分析其临床特征。结果:所研究家系的先证者为SCA1基因CAG中等重复序列等位基因携带者,其临床表型存在共性和一定的差异。结论:本研究证实了SCA1基因CAG中等重复序列的致病性,且在不同的家系患者存在临床变异。Objective：To investigate the clinical features of the cases with intermediate Cytosine-Adenine- Guanine （CAG） repeat alleles of spinocerehellar ataxia type 1 （SCA1）.Methods：Fragment analysis based on CEQ8000 sequencer were applied to analyze the CAG repeat of SCA1 gene in two autosomal dominant inherited spinocerehellar ataxia pedigrees.Their clinical features were studied carefully.Results：The prohands of the two pedigrees carried intermediate CAG repeat alleles of SCA1, whose phenotype were similar hut with some differences.Conclusion：These findings indicate that the intermediate CAG repeat allele of SCA1 is correlated with the SCA1 phenotype. Furthermore, the clinical variation exists in the cases of diverse pedigrees.

关 键 词：脊髓小脑共济失调1型 中等重复 片段分析 临床变异性 

分 类 号：R744[医药卫生—神经病学与精神病学]