脊髓小脑共济失调基因分型及临床特点分析  

Analysis of genotype and clinical characteristics of spinocerebellar ataxias

作　　者：夏明荣 李书剑[1] 时英英[1] 贺爽[1] 黄月[1] 张杰文[1] 

机构地区：[1]郑州大学人民医院/河南省人民医院神经内科,河南郑州450003

出　　处：《河南医学研究》2016年第2期196-198,共3页Henan Medical Research

基　　金：河南省科技厅重点卫生科技攻关项目(122102310159)

摘　　要：目的分析脊髓小脑共济失调患者的基因分型及其临床特点。方法应用聚合酶链反应(PCR)对12例不明原因共济失调患者SCA1、SCA2、SCA3、SAC6、SCA7基因内CAG三核苷酸重复片段进行扩增,PCR产物经2%琼脂糖凝胶电泳检测,从而对临床确诊患者进行基因分型。结果 12例患者经基因检测7例确诊为脊髓小脑共济失调,其中SCA3型4例,SCA1型3例。各型之间临床表现相互重叠,主要表现为行走不稳、言语不清。结论 SCA3型是脊髓小脑共济失调最常见亚型,其次为SCA1型。基因检测可对临床疑诊患者进行确诊及分型。Objective To analyze the genotype and clinical characteristics of spinocerebellar ataxias. Methods The CAG trinucleotide repeats in SCA1、SCA2、SCA3、SCA6、SCA7 genes were performed by polymerase chain reaction（ PCR）,and the products of PCR were detected by 2% agarose gel electrophoresis techniques. According to the results,the genotype of the spinocerebellar ataxia was determined and the clinical characteristics was analyzed. Results 7 symptomatic patients were detected,four of them were SCA3 type,three of them were SCA1 type. Their clinical manifestations were mainly limb ataxia and barylalia,and most of them were overlap. Conclusion SCA3 type is the most common subtype of spinocerebellar ataxia,followed by SCA1 type. Genetic diagnosis can contribute to identify the genotype and define clinical patients.

关 键 词：脊髓小脑共济失调 三核苷酸重复 基因分型 临床特点 

分 类 号：R744[医药卫生—神经病学与精神病学]