脊髓小脑共济失调第7型的临床特征及基因突变研究  

The clinical features and gene mutation analysis in a pedigree of spinocerebellar ataxia type 7

作　　者：殷鑫浈[1] 张宝荣[1] 吴鼎文[2] 田均[1] 张灏[1] 

机构地区：[1]浙江大学医学院附属第二医院神经内科,杭州310009 [2]中南大学医学遗传学国家重点实验室,长沙410078

出　　处：《遗传》2007年第6期688-692,共5页Hereditas（Beijing)

基　　金：浙江省科技厅项目(编号:2005C33011);浙江省卫生厅项目(编号:2005A044)~~

摘　　要：对一脊髓小脑性共济失调(Spinocerebellar ataxia,SCA)家系的患者进行临床特征及相关基因突变研究。对该家系进行详细的病史采集,并对患者行视力、眼底血管造影、眼底拍照、视觉诱发电位、视网膜电图以及头颅MRI等辅助检查;采用聚合酶链反应分别扩增SCA1、SCA2、SCA3、SCA6、SCA7、SCA17及DRPLA基因的CAG重复序列,用8%变性聚丙烯酰胺凝胶电泳及直接测序进行突变分析。结果2名患者主要表现为小脑性共济失调、视力下降、眼底视网膜色素变性、小脑和脑干萎缩;并存在SCA7基因的突变,而未发现SCA1、SCA2、SCA3、SCA6、SCA17及DRPLA基因突变。说明该家系为SCA7突变家系,SCA7基因中CAG三核苷酸重复拷贝数的异常扩增是其致病原因。We investigated the clinical features and gene mutation in a pedigree of spinocerebellar ataxia （SCA）. A series of clinical tests was performed including visual examination, retinal angiography, visual evoked potential, electroretinogram and magnetic resonance imaging. Genomic DNA of the family members and normal controls was used for amplification of the （CAG）n repeats of SCA1, SCA2, SCA3, SCA6, SCA7, SCA17 and DRPLA genes by PCR. The number of （CAG）n was determined by 8% denaturing polyacrylamide gel electrophoresis and direct sequencing. The main features of 2 patients were ataxia, visual failure, retinal degeneration, cerebellar and pontine atrophy. A mutation in SCA7 gene was detected, while no mutations were found in SCA1, SCA2, SCA3, SCA6, SCA17 or DRPLA gene. Therefore, this is a pedigree of SCA7. Analysis of the CAG trinucleotide repeat expansion at the SCA7 locus can provide valuable insights into SEA7.

关 键 词：脊髓小脑性共济失调第7型 视网膜变性 基因突变 

分 类 号：R744[医药卫生—神经病学与精神病学]