【摘要】 目的分析中国人Leber遗传性视神经病变(Leber′s hereditary optic neuropathy,LHON)3个原发致病基因突变的特征及中医辨证分型。方法对66例LHON患者分别用异源双链-单链构像多态性(HA-SSCP)、限制性片段长度多态性(RFLP)、突变特异性引物聚合酶链反应(MSP-PCR)及DNA测序等方法检测其mtDNA11778,14484,3460位点的基因突变情况,并进行中医辨证分析。结果66例患者中11778位点突变55例,占83·33%。14484位点突变9例,占13·64%,3460位点突变2例,占3·03%。肝经郁热型39例,肝郁肾虚型17例,肝肾阴虚型10例。结论中国人LHON患者mtDNA3个原发致病位点突变中以11778位点突变为主,14484次之,3460最少。其发病与中医肝肾关系密切。更多还原

【Abstract】 OBJECTIVE To analyze the characters of three primary pathogeneticmitochondrial DNA(mtDNA)in Chinese patients with Leber′s hereditary optic neuropathy(LHON)and Chinese medicine-discrimination subtype.METHODS The primary mtDNA mutations(11778,14484,3460)of 66 patients with LHON were detected by heteroduplex-single strand conformation polymorphism polymerase chain reaction(HA-SSCP),restriction fragment length polymorphisms(RFLP),mutation-specific priming polymerase chain reaction(MSP-PCR)and measurement of DNA sequence,and analyze it by Chinese medicine-discrimination.RESULTS In the 66 patients with LHON(45 males and 21females),11778 mtDNA primary mutation was found in 55(83.33%),14484 mutation was found in 9(13.64%),and 3460 mutation was found in 2(3.03%).Ganjingyure(肝经郁热)was found in 39,ganyushenxu(肝郁肾虚)was found in 17,and ganshenyinxu(肝肾阴虚)was found in 10.CONCLUSIONS Detection of mtDNA provide evidence of diagnosis to establish or exclude LHON.In Chinese patients with LHON,the incidence of 11778 mtDNA mutation is the highest,14484 is the second and 3460 is the last one.The pathogenesis of LHON have a close relationship with liver and kidney in Chinese medicine.更多还原