Leber’s遗传性视神经病线粒体DNA突变二例的检测  

Detection of mitochondrial DNA mutation in Leber's hereditary optic neuropathy

作　　者：郭锋[1] 夏蓓莉[1] 刘雯[1] 左伋[1] 

机构地区：[1]复旦大学上海医学院细胞与遗传医学系,200032

出　　处：《中国优生与遗传杂志》2005年第10期23-24,100,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的检测两例Leber’s遗传性视神经病的突变位点。方法常规酚—氯仿法提取2名LHON患者基因组DNA,PCR扩增后对mtDNA11778进行检测。结果mtDNA11778位点处存在G→A突变。Objective： To investigate the mutation with 2 cases of LHON. Metheds： Total DNA was extracted from the blood cells and purified by using of phenol- trichlormethane extraction on 2 patients, then exam mtDNA G11778A mutation and mtDNA G3460A mutation by PCR. Results： People had mtDNA11778 mutation.

关 键 词：Leber's遗传性视神经病 线粒体DNA 突变 

分 类 号：R774[医药卫生—眼科]