广西地区脊髓小脑性共济失调3型/Machado-Joseph病患者的基因诊断及临床特征分析  

GENE DIAGNOSIS AND CLINICAL CHARACTERISTIC ANALYSIS OF SPINOCEREBELLAR ATAXIA TYPE 3/MACHADO-JOSEPH DISEASE IN GUANGXI REGION

作　　者：罗曼[1] 肖友生[1] 甘露[1] 张剑[2] 曹小丽[1] 王进[1] 

机构地区：[1]广西医科大学第一附属医院神经内科,南宁530021 [2]广西医科大学第一附属医院心理卫生中心,南宁530021

出　　处：《广西医科大学学报》2012年第4期520-522,共3页Journal of Guangxi Medical University

基　　金：广西自然科学基金资助项目(No.桂科自0728147)

摘　　要：目的:研究广西地区脊髓小脑性共济失调3型/Machado-Joseph病(SCA3/MJD)患者的基因突变及临床特征。方法:应用聚合酶链反应(PCR)、毛细管电泳(CE)片段长度分析、测序方法对临床诊断为脊髓小脑性共济失调103名患者及"健康"家系成员进行SCA3/MJD基因CAG重复拷贝数检测。结果:共确诊43名SCA3/MJD患者及症状前患者;患者的发病年龄与CAG重复拷贝数呈明显的负相关关系(r=-0.683,P<0.05),并存在遗传早现现象,临床特征中锥体束征与CAG重复拷贝数呈正相关(r=0.808,P<0.05)。结论:广西地区的SCAs患者主要为SCA3/MJD型,CAG重复拷贝数具有一定的临床意义。Objective： To study the gene diagnosis and clinical characteristics of patients with spinocerebellar ataxia type 3/Machado-Joseph disease （SCA3/MJD） in Guangxi region. Methods：The SCA3/MJD trinucleotide CAG repeat number was detected by polymerase chain reaction, capillary electrophoresis and DNA sequencing. Results： Forty three SCA3/MJD patients and presymptomatic relatives were confirmed by detecting abnormal CAG repeat number. Several aspects in the phenotype of SCA3/MJD correlated to the length of CAG repeat number. Conclusion： SCA3/MJD is most common subtype in Guangxi region and CAG repeat number may influence on clinical phenotype.

关 键 词：脊髓小脑性共济失调 Machado—Joseph病 基因诊断 CAG重复拷贝数 临床特征 

分 类 号：R744.7[医药卫生—神经病学与精神病学]