广西医科大学学报2012，Vol.29Issue(4)：520-522,3.
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
摘要
Abstract
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 trinucle-otide 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Key words
spinocerebellar ataxia/ Machado-Joseph disease/ gene diagnosis/ CAG repeat number/ clinical characteristics分类
医药卫生引用本文复制引用
罗曼,肖友生,甘露,张剑,曹小丽,王进..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[J].广西医科大学学报,2012,29(4):520-522,3.基金项目
广西自然科学基金资助项目(No.桂科自0728147) （No.桂科自0728147）
