遗传性共济失调线粒体DNA11778、8344点突变的研究

THE ANALYSIS OF MITOCHONDRIAL DNA POINT MUTATIONS AT POSITIONS 11778 and 8344 IN HEREDITARY ATAXIA

目的:探索线粒体DNA点突变与遗传性共济失调的关系。方法:采用聚合酶链反应(PCR)扩增临床确诊为遗传性共济失调的26例患者和35例健康对照组外周血白细胞的线粒体DNA,并对PCR产物进行单链构象多态性(SSCP)分析。结果:所有对象均未检测到点突变。结论:遗传性共济失调的发生、发展可能与该区域点突变无关。

Objective：To study the possible relationship between mitochondrial DNA point mutations and hereditary ataxia. Methods .Polymerase chain reaction （PCR） and single strand conformation polymorphism （SSCP） was used to analyse the amplyfied mitochondrial DNA of extracted human perpheral white blood cells in 26 patients with HA and 35 normal controls. Result： We had not found point mutation in all subjects. Conclusion.The point mutation in this area of mitochondrial DNA might not be related hereditary ataxia.