线粒体DNA 13731点突变与脊髓小脑性共济失调相关性研究

Mitochondrial DNA point 13731 mutation in spinocerebellar ataxia

目的探索线粒体DNA（mtDNA）突变位点与脊髓小脑性共济失调（SCA）的关系。方法采用聚合酶链反应（PER）对基因确诊的四个SCA家系10例患者及其亲属共34例与40例健康对照的线粒体ND5基因片段进行扩增，扩增产物进行单链构象多态性分析（SSCP），对SSCP出现异常的样本进行相应mtDNA片段测序。结果在一家系的1名确诊患者及1名症状前患者检测到mtDNA13731（T〉C）点突变。结论脊髓小脑性共济失调的发生、发展可能与mtDNA突变有关。

Objective To study the possible relationship between the point mutation in mitochondrial DNA （mtDNA） and the progression spinocerebellar ataxia（SCA）. Methods Polymerase chain reaction（PCR） was used to amplify the mtDNA segments of these patients and their relatives individuals,40 volunteers. The mtDNA segment lied in the above mtDNA ND5 gene. For PCR products of the mtDNA segment, single strand conformation polymorphism （SSCP） was executed to detect mutations and the abnormal segments were sequenced. Results We had found a new mtDNA mutation in segments of mtDNA point 13731 （T 〉 C） ,was identified in 1 patient and 1 presymptomatic relatives. Conclusion A new point mutation of detected mitochondrial DNA may be lated to SCA.