【摘要】 目的:探讨Leber遗传性视神经病变(LHON)患者的线粒体DNA(mtDNA)突变。方法:运用聚合酶链反应-单链构象多态性分析(PCR-SSCP)和DNA序列测定方法,设计4对引物,扩增出含11778、14484、3460三个已知原发突变位点和3394、4136、4160、4216、11696、14459、14482、14498八个已知继发突变位点的4对mtDNA片段,对3个LHON家系30位母系成员的血样进行检测。32份无视力障碍的正常人血样作对照。参照mtDNA序列为剑桥标准mtDNA序列。结果:30位母系成员均含11778位点突变,其中1人合并4164位点突变(A→G)。与剑桥标准mtDNA序列对比,30位LHON母系成员和32位正常对照均含有11719位点突变。结论:11778是LHON患者常见的突变位点,4164位点突变可能是新的继发突变或正常人单核苷酸位点多态性。11719位点突变可能是中国人存在的单核苷酸位点多态性。更多还原

【Abstract】 Aim: To investigate the mtDNA mutation in Leber hereditary optic neuropathy (LHON)patients. Methods:Blood samples from 30 maternal members of LHON families were analyzed using polymerase chain reaction combined single strand conformation polymorphism(PCR-SSCP) and DNA sequencing. Four mtDNA fragments were amplified using four pairs of primers, which covered 11 reported nucleotide position mutations(11 778,14 484,3 460,3 394,4 136,4 160,4 216,11 696,14 459,14 482,14 498). After PCR-SSCP, DNA sequencing was used to check the mtDNA mutation.Thirty-two blood samples from healthy persons were used as control. The Cambridge standard mtDNA complete sequence was used as reference sequence.Results: There was 11 778 mutation in all 30 maternal blood samples, and one of them also included 4 164 (A→G) mutation. Compared with Cambridge standard mtDNA complete sequence, 11 719 mutation was found in all experiment and control samples. Conclusion: 11 778 mutation is overwhelming majority in Chinese LHON patients. The novel mutation (4 164) may be a secondary mutation point of LHON or single nucleotide polymorphism in normal individuals.11 719 mutation perhaps is single nucleotide polymorphism of Chinese people and worth further study.更多还原