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目的 分析山西地区线粒体 DNA11778位点突变者外显率。方法 应用等位基因特异性PCR检测视神经病变者线粒体DNA11778位点 ,对突变者及其母系成员进行分析。结果 在 30个家系中 17个家系仅先证者患病 ,另 13个家系除先证者外母系亲属有 72人携带该位点突变 ,其中 4 0人出现临床症状。结论 山西地区线粒体 DNA11778位点突变者外显率达 5 5 .6 %。
Objective To analyze the penetrance of mitochondrial DNA 11778 mutation in Shanxi Province. Methods Allele-specific PCR was used to detect mitochondrial DNA 11778 locus in patients with optic neuropathy. Mutants and their maternal members were analyzed. Results Among the 30 pedigrees, only 17 probands were affected by the disease. In addition, 72 of the other 13 pedigrees except the proband carried this site mutation, and 40 of them showed clinical symptoms. Conclusion The penetrance of mitochondrial DNA 11778 locus in Shanxi Province was 55.6%.