【摘要】 目的了解 Leber 氏遗传性视神经病变(Leber’s hereditary optic neuropathy,LHON)相关的线粒体DNA 原发性突变基因检测结果,探讨该项检查的临床意义。方法采用聚合酶链反应(polymerase chainreaction,PCR),检测先证者及其母系血缘亲属外周血 DNA 中提取的线粒体 DNA 的3 460位点,11778位点。结果本组临床确诊患者的 DNA 均表现为11 778位点突变,未发现3 460位点突变。结论 Leber 病发病机制为mtDNA 点突变,线粒体 DNA 的检测分析为确立 LHON 提供了诊断依据,尤其对无家族史或原因不明的双侧性视神经炎的患者更具有诊断价值。并为其它神经性遗传病的研究提供了技术支撑。更多还原

【Abstract】 Purpose To study the primary mutations of mitochondrial DNA(mtDNA)associated with Leber’s hereditary optic neuropathy(LHON)patients.Methods Mutations at bp 3 460 and bpl 1 778 of mtDNA were tested by PCR technique to detect DNA in peripheral blood.The samples were taken from the patients and his maternal relatives with blood- relationship.Results The mtDNA mutations at position 11 778 were found in all clinically diagnosed LHON.Conclusion Genetic detecting of mtDNA provides a useful diagnostic aid in confirming or excluding the diagnosis of LHON,particularly useful in cases without a family hereditary history and cases with bilateral optic neuritis from some unknown cause.And it also gives technical support to the diagnosing of other neural hereditary diseases.更多还原