【摘要】 目的　建立全血样等位基因特异性聚合酶链反应 (PCR)法快速筛查Leber遗传性视神经病变(LHON)患者线粒体DNAG11778A位点突变。方法　采用直接以全血样为模板的等位基因特异性PCR法检测 14例阳性对照和 10例阴性对照血样。同时对 22例血样进行双盲检测。结果24份对照血样检测结果表明该方法的准确率为 100%,而且以全血样为模板的PCR特异性优于以纯化DNA为模板的。双盲检测 22例血样发现 7例阳性结果和 15例阴性结果,与预期结果相一致。结论　该方法简便、快速、准确、经济,非常适合临床基因诊断线粒体DNAG11778A位点突变的LHON患者,具有重要的临床推广应用价值。更多还原

【Abstract】 Objective Rapid Genetic Screening of Leber′s hereditary optic neuropathy (LHON) with mtDNA G11778A mutation by allele specific polymerase chain reaction(AS PCR) with whole blood Methods Whole blood with anticoagulant was used as a template of AS PCR for the analysis of LHON with mtDNA G11778A point mutation The amplified DNA fragment was directly observed by electrophoretogram with ethidium bromide stained Results The accuracy was 100% by using this method in 24 blood samples tested, and the specific of PCR of which used whole blood as template was better than one of the purified mtDNA The reliability of the method for screening of LHON with mtDNA G11778A mutation was checked by double blind test in 22 blood samples Conclusion This method does not need purified DNA from blood and only required one step of PCR Thus, it is very simple, rapid and accurate for the clinical genetic screening of LHON with mtDNA G11778A point mutation更多还原