Leber氏遗传性视神经萎缩病——一种因线粒体DNA突变引起的疾病  

A mitochodrial DNA mutation as a cause of Leber's hereditary optic neuropathy.

作　　者：张丽珊[1] 黄鹰[1] 李方园[1] 朱斌[1] 王世浚[1] 高静娟[2] 童绎[2] 

机构地区：[1]南京铁道医学院生物学教研室,210009 [2]福建医学院眼科教研室

出　　处：《中国神经精神疾病杂志》1993年第4期194-196,共3页Chinese Journal of Nervous and Mental Diseases

基　　金：国家自然科学基金

摘　　要：本文研究了8个独立来源的中国汉族人Leber氏病家系的患者,其中在4个家系的患者中找到了这种突变。这种转换突变使NADH脱氢酶第4个亚单位(ND_4)的第340位编码子的精氨酸转变为组氨酸,并使SfaNI酶的切割位点消失,因此可提供一种简单的诊断方法。Leber's hereditary optic neuropathy is a maternally inherited disease. The mitochondrial DNA mutation was correlated with this disease. In our report, eight patients form independent Chinese families with this disease were analysed. The mutation was found in four families. This replacement mutation converted a arginine to a histidine at con-don 340 in the 4th gene subunit of NADH deny-drogenase and eleminated a sfa NI site. The finding provided a simple diagnostic test for this disease.

关 键 词：DNA 线粒体 视神经萎缩 

分 类 号：R774.63[医药卫生—眼科]