Wang Jin, Luo Man, Yuan Zhigang, Yang Xiao, Li Guibing
Department of Neurology, the First Affiliated Hospital, Guangxi Medical University, Nanning, Guangxi 530021, P. R. China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2008 Dec;25(6):667-9.
To study the possible relationship between the mitochondrial DNA (mtDNA) mutation and spinocerebellar ataxia type 3 (SCA3).
Genetic diagnosis of SCA3 was made by detecting the CAG-repeat expansion of MJD1 gene using PCR and DNA sequencing techniques. Then polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) was performed to analyze the mitochondrial DNA extracted from peripheral white blood cells from 43 patients and presymptomatic individuals diagnosed according to CAG expansion, and 30 healthy individuals. Mitochondrial DNAs of subjects with abnormal SSCP were sequenced.
A new mitochondrial DNA deletion of 9 bp at mtDNA 8282-8290 was identified in 1 patient and 3 presymptomatic individuals.
A new deletion mutation of mitochondrial DNA in 1 SCA3 patient and 3 presymptomatic individuals is reported.
研究线粒体DNA（mtDNA）突变与3型脊髓小脑共济失调（SCA3）之间可能存在的关系。
采用聚合酶链反应（PCR）和DNA测序技术检测MJD1基因的CAG重复序列扩增，对SCA3进行基因诊断。然后，运用聚合酶链反应-单链构象多态性（PCR-SSCP）分析从43例根据CAG扩增确诊的患者及症状前个体以及30例健康个体的外周血白细胞中提取的线粒体DNA。对SSCP异常的受试者的线粒体DNA进行测序。
在1例患者和3例症状前个体中鉴定出一种新的线粒体DNA缺失，位于mtDNA 8282 - 8290处，缺失9个碱基对。
报道了1例SCA3患者和3例症状前个体中存在一种新的线粒体DNA缺失突变。
