脊髓小脑性共济失调3型线粒体DNA突变的研究  

The mitochondrial DNA mutation in spinocerebellar ataxia type 3

作　　者：王进[1] 罗曼[1] 袁志刚[2] 杨笑[3] 李桂冰[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]广西医科大学生物学教研室 ,南宁530021 [3]宁夏医学院附属医院神经内科

出　　处：《中华医学遗传学杂志》2008年第6期667-669,共3页Chinese Journal of Medical Genetics

基　　金：广西自然科学基金（0339049）

摘　　要：目的探索脊髓小脑性共济失调3型（spinocerebellar ataxia type3，SCX3）与线粒体DNA（mito．chondrial DNA，mtDNA）突变的关系。方法采用测序方法对临床诊断为脊髓小脑性共济失调的患者及家系成员行MJD1基因CAG重复拷贝数检测，以基因水平确诊SCA3患者及症状前患者。然后采用聚合酶链反应、单链构象多态性分析、测序方法对基因确诊的43例SCA3患者及症状前患者和30名对照组的mtDNA片段进行分析。结果发现SCA3组4名成员存在mtDNA位点8282．8290区域9个碱基缺失。结论在CA3患者及症状前患者中发现mtDNA缺失突变的现象。Objective To study the possible relationship between the mitochondrial DNA （mtDNA） mutation and spinoeerebellar ataxia type 3 （SCA3）. Methods 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 con- formation polymorphism （PCR-SSCP） was performed to analyze the mitoehondria] DNA extracted from peripheral white blood cells from 43 patients and presymptomatic individuals diagnosed accoiding to CAG expansion, and 30 healthy individuals. Mitochondrial DNAs of subjects with abnormal SSCP were sequenced. Results A new mitochondrial DNA deletion of 9 bp at mtDNA 8282-8290 was identified in 1 patient and 3 presymptomatic individuals. Conclusion A new deletion mutation of mitochondrial DNA in 1 SCA3 patient and 3 presymptomatic individuals is reported.

关 键 词：脊髓小脑性共济失调3型 线粒体DNA 突变 

分 类 号：R686[医药卫生—骨科学]