为探讨Leber遗传性视神经病变(Leber′shereditaryopticneuropathy,LHON)家系线粒体DNA(mtDNA)常见致病原发突变的频谱,用聚合酶链反应(polymerasechainreaction,PCR)和单链构象多态性(single strandedconformationalpolymorphism,SSCP)以及DNA测序的方法,对13个家系22位临床诊断为LHON的患者及其母系亲属21人的线粒体DNA进行检测,同时检测71例正常人作为对照。临床拟诊为LHON的13个家系中,11个家系存在mtDNA位点11778G→A突变,另2个家系存在14484位点T→C突变。说明中国LHON病人存在线粒体DNA11778或14484位点突变,其中14484位点突变在国内尚未见报道。 To investigate the spectrum of common virulence mutations in mitochondrial DNA (mtDNA) of Leber’s hereditary optic neuropathy (LHON), we used polymerase chain reaction (PCR) and single stranded conformational polymorphism SSCP) and DNA sequencing methods were used to detect mitochondrial DNA of 21 patients with LHON in 21 pedigrees and 21 maternal relatives, and 71 healthy controls were also tested. Of the 13 pedigrees clinically diagnosed as LHON, 11 had mtDNA site 11778G → A mutation in 11 pedigrees, and 14484 T → C mutations in the other two families. This shows that there is a mitochondrial DNA 11778 or 14484 site mutation in LHON patients in China, of which 14484 site mutation has not been reported in China.