目的探讨国人Leber病线粒体DNA3个原发位点突变的发生频率及其相关研究。方法视力、视野、视觉电生理、FFA等检查而确诊为视神经病变者，常规采用外周血液行mtDNA3个位点检测，行单链构像多态分析、突变特异引物多聚酶反应、改良等位基因特异性PCR及序列分析等；同时对发病性别、年龄、视力等进行观察。结果65个家系中有104例mtDNA突变。11778位点阳性，发病97例，男73例，女24例；携带者41例，男8例，女33例。mtDNA 14484位点突变9例，5例发病；3460位点突变3例，2例发病（同时并发11778位点突变）。其发生频率11778占93．3％．14484占4．8％，3460和11778占1．9％．发病年龄15岁以下占48％，25岁以下93．3％．视力低于0．05者占60．6％．长期随访中有10例视力不同程度恢复，自发恢复率占9．6％．结论Leber遗传性视神经病变以男性mtDNA 11778位点突变占绝对多数，可作为国人常规初筛，属母系遗传，严重威胁视力，发病年龄有偏低趋势，视力恢复与不同位点有关。
Objective To investigate the frequency of common pathogenic primary mitochondrtal DNA mutations in the pedigrees of Leber＇s hereditary optic neuropathy （LHON）, and the related research in China. Methods All patients were diagnosed optic neuropathy by check-up with visual acuity, visual field, visual evoked cortical potential （VEP） and fundus fluorescein angiography （FFA）. Mutations were determined by polymerase chain reaction（PCR）, single-stranded conformational polymorphism （ SSCP ） and DNA sequencing. To observed patients＇ sex and age at same time. Results One hundred and four patients have mtDNA mutations in 65 genealogies. Ninty-seven patients harbor 11 778 mutation, in which males are 73 cases, females are 24 cases. Nine patients have homoplasmic mutation 14 484, 5 cases were affected. Three patients have homoplasmic mutation 3 460,2 cases were affected. Both mtDNA 3 460 and 11 778 mutations have 2 cases. At total patients mutations at nuclei acid 11 778 consist of 93.3%, 14 484 consist of 4.8% ,both 3460 and 11 778 consist of 1.9%.The percent of onset age under 15 is 50%, under 25 is 93.3%. Visual acuity below 0.05 patients consist of 60.6%. In follow-up research, 10 patients have spontaneous recovery on different degrees, consisted of 9.6%. Conclusion The majority of patients are male harbor 11 778 mutation. The detection on nucleotide position 11 778 could be used as the basis to the diagnostic criteria of initial screening to patients with clinical symptoms in China. LHON is maternal inherlted form of damages vision severely. At onset the age has younger tendency in the recent years. Vision spontaneously recovered phenomenon correlate to different mutation sites.
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