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目的探讨Leber遗传性视神经病变(LHON)线粒体DNA原发性突变特征。方法利用Pyrosequencing和测序技术对11个LHON家系的13例典型患者及其30位家系成员11778G>A等12余种线粒体DNA突变位点进行分析。结果本地区LHON患者均为线粒体DNA同质性突变(homoplasmy)。11个LHON家系中有7个分别含有11778G>A,14484T>C和3460G>A原发性突变位点,占63.6%(7/11例)。13例患者线粒体DNA突变以11778G>A为主(53.8%,7/13例)。13708G>A和3552T>A突变单独存在于2个LHON家系中。3460G>A与3394T>C合并存在。未发病家系成员中可见11778G>A,14484T>C,13708G>A纯合性或杂合性突变体。结论继发性突变位点可单独存在,也可与原发性突变位点合共同导致LHON的发病。11719 G>A可能成为人线粒体有用的生物标签。
Objective To investigate the primary mitochondrial DNA mutation in Leber’s hereditary optic neuropathy (LHON). Methods Pyrosequencing and sequencing techniques were used to analyze the mitochondrial DNA mutations in more than 12 mitochondrial DNA of 11 typical LHON patients and their 11778G> A family members. Results LHON patients in this region all had homoplasmy of mitochondrial DNA. Seven of 11 LHON pedigrees contained 11778G> A, 14484T> C and 3460G> A primary mutation sites, accounting for 63.6% (7/11 cases). Mitochondrial DNA mutations in 13 patients were mainly 11778G> A (53.8%, 7/13). The 13708G> A and 3552T> A mutations were found in 2 LHON families alone. 3460G> A and 3394T> C exist in combination. Unfamiliar pedigree members can be seen 11778G> A, 14484T> C, 13708G> A homozygous or heterozygous mutant. Conclusion The secondary mutation sites may exist alone or together with the primary mutation sites to cause LHON. 11719 G> A may be a useful biomarker for human mitochondria.