经测序证实的广东马查多-约瑟夫病的临床及基因突变特征研究  

Research on Clinical Manifestations and Gene Mutation of SCA3/MJD by DNA Sequencing in Guangdong Province

作　　者：宋兴旺[1] 王玉良[1] 曾涛[1] 民福利[1] 易咏红[1] 

机构地区：[1]广州医学院第二附属医院神经内科广州医学院神经科学研究所,广东广州510260

出　　处：《临床医学工程》2010年第7期35-37,共3页Clinical Medicine & Engineering

摘　　要：目的了解广东脊髓小脑型共济失调3型(Spinocerebellar ataxia type3,SCA3)/马查多-约瑟夫病(Machado-Joseph disease,MJD)的临床以及基因突变特征。方法应用聚合酶链式反应(PCR)和琼脂糖凝胶电泳以及测序技术,检测分析了广东省12个经临床诊断为SCA家系的21名患者、3名家系"正常人"以及8名散发SCA患者的SCA3/MJD基因三核苷酸重复突变,并分析基因确诊的SCA3/MJD患者的临床特征。结果检出10个SCA3/MJD家系15例患者,2例症状前患者,散发病例未检出SCA3/MJD患者。测序证实异常SCA3/MJD基因三核苷酸重复突变次数为70～81次,正常等位基因重复次数为14～36次,SCA3/MJD常见的临床表现除进行性加重的小脑性共济失调外,还常常合并锥体系以及锥体外系异常,发现一个SCA3/MJD家系患者表现为"纯"小脑性共济失调。结论 SCA3/MJD是广东最常见的SCA亚型,SCA3/MJD具有明显的临床异质性。Objective To study the clinical characteristics and gene mutation of SCA3/MJD in Guangdong Province. Methods The CAG trinucleotide repeat expansion in SCA 3/MJD gene were detected by using polymerase chain reaction, agarose gel electrophoresis and DNA sequencing techniques in 21 patients, 3 ＂normal＂ persons from 12 SCA families and 8 sporadic SCA patients. The clinical features were analyzed in patients with SCA3/MJD diagnosed by DNA sequencing. Results 15 SCA3/MJD patients and 2 presymptomatic SCA3/MJD patient were detected in 10 families, the trinucleotide repeat expansion of SCA 3/MJD gene were not detected in sporadic SCA patients. Normal alleles of SCA3/MJD have CAG repeats ranging from 14 to 36, abnormal from 70 to 81. The mainly clinical manifestations of SCA3/MJD patients were slowly progressive cerebellar ataxia with pyramidal and extrapyramidal disturbances, However, SCA3/MJD patients from 1 family presented as ＂pure＂ cerebellar ataxia. Conclusions SCA3/MJD is the most common SCA subtype in Guangdong Province, which clinical features have remarkable heterogeneity.

关 键 词：脊髓小脑型共济失调 马查多-约瑟夫病 三核苷酸重复扩增 基因诊断 

分 类 号：R744.7[医药卫生—神经病学与精神病学]