Leber遗传性视神经病变线粒体DNA突变的研究  

The study of mtDNA mutation in Leber hereditary optic neuropathy.

作　　者：郑梅玲[1] 贺江梅[1] 张桂林[1] 化爱玲[1] 张月莲[1] 

机构地区：[1]山西医科大学第一医院计划生育研究室,山西太原030001

出　　处：《中国优生与遗传杂志》2007年第8期23-24,共2页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨Leber遗传性视神经病变患者的线粒体DNA突变类型及特点。方法分别应用等位基因特异性PCR(MSP-PCR)、聚合酶链反应-限制性片段长度多态性(PCR-RFLP)和聚合酶链反应-单链构象多态性(PCR-SSCP)联合DNA测序的方法,对12个家系中21位临床症状疑诊为LHON的患者及其19位无明显眼疾的母系亲属进行线粒体DNA检测。结果40例受检者中35例发生11778位点突变,2位成员有3460位点突变,有1例发现有4258位点突变(A→G)。结论11778是LHON患者常见的突变位点,3460突变少见,新发现的突变位点4258可能是新的继发突变或基因多态性。Objective： To investigate the mtDNA mutation type and features in Leber hereditary optic neuropathy （LHON） patients. Methods： Blood samples from 12 families, which include 21 patients and 19 healthy maternal members, were simultaneously analyzed using mutation specific primer polymerase chain reaction （ MSP - PCR）, restriction fragment length polymorphisms （ PCR - RFLP） technique, polymerase chain reaction combined single strand conformation polymorphism （PCR- SSCP） and DNA sequencing. Results： There were 35 members who habored 11778 mutation, and two of 40 subjects happened 3460 mutation, Only one 4258 （A→G） mutation was found in all samples. Conclusion： 11778 mutation is overwhelming majority in LHON patients, 3460 mutation is relatively minor. The novel mutation （4258） may be a original secondary mutation point or single nucleotide polymorphism in normal individuals.

关 键 词：LEBER遗传性视神经病变 线粒体DNA突变 等位基因特异性PCR、限制性片段长度多态性 单链构象多态性 DNA序列分析 

分 类 号：R774.6[医药卫生—眼科]