Leber遗传性视神经病少见mt-DNA原发突变位点研究  

Rare primary mt-DNA mutations in Leber hereditary optic nem'opathy

作　　者：崔世磊[1] 杨凌[1] 王薇[1] 尚军[1] 张晓君[1] 

机构地区：[1]首都医科大学附属北京同仁医院神经内科,100730

出　　处：《眼科》2007年第6期382-385,共4页Ophthalmology in China

摘　　要：目的探讨中国人Leber遗传性视神经病(LHON)患者少见线粒体DNA(mt-DNA)原发性突变位点。设计临床研究。研究对象常见线粒体DNA原发突变位点阴性的可疑LHON患者和正常人。方法采集临床诊断LHON患者的外周血,提取总DNA,聚合酶链反应(PCR)扩增和DNA直接测序的方法,进行mt-DNA G11778A、G3460A和T14484C突变位点筛查,对于以上3个突变位点均阴性的患者和正常对照组进行mt-DNA片段3962～4356和11320～11789扩增、测序,采用NCBI的BLAST服务,与剑桥标准序列进行比对,分析LHON患者是否携带C4171A或G11696A突变位点。主要指标mt-DNA测序结果。结果共收集临床诊断LHON患者56例,44例患者为3个常见位点之一为阳性(G11778A阳性36例,G3460A阳性3例,T14484C阳性5例),3个常见原发突变位点均为阴性患者12例,其中1例患者携带C4171A突变,未发现G11696A突变位点。正常对照组25例,未发现G11696A、C4171A突变位点。结论C4171A突变位点可能是中国人LHON患者少见原发突变位点。(眼科,2007,16:382-385)Objective To explore the rare primary mt-DNA mutation in LHON patients in China. Design Clinical study. Participants Clinically diagnosed LHON patients whose common primary mt-DNA mutations were negative and normal persons. Methods Polymerase chain reaction （PCR） and DNA sequencing were used to detect the mutations of G11778A, G3460A and T14484C in mt-DNA of clinically diagnosed LHON patients. Fragments of mt-DNA 3962-4356 and 11320-11789 were PCR amplified and sequenced if all the three mutations above were negative and also in the control group. The sequence results were analyzed by the BLAST service provided by NCBI and compared with the 2001 Revised Cambridge Reference Sequence for the mt-DNA mutations C4171A and G11696A. Main Outcome Measures The sequence results of mt-DNA. Results There were totally 56 cases of clinical diagnosed LHON patients included. The mutation of Gl1778A was found in 36 cases, G3460A was found in 3 cases, and T14484C was found in 5 cases. Twelve cases of clinical diagnosed LHON patients didn＇t harbor any of the three common primary mutations, one case harbored the mutation C4171A, the mutation of G11696A was not found. There were totally 25 cases in the control group, the mutations of Gl1696A and C4171A were not found. Conclusion C4171A may be rare primary mt-DNA mutation in LHON patients in China.（Ophthalmol CHN, 2007, 16： 382-385）

关 键 词：LEBER遗传性视神经病 线粒体DNA 点突变 

分 类 号：R774.6[医药卫生—眼科]