Leber遗传性视神经萎缩基因突变比率实验研究  

Research on the ratio of mutation mtDNA ofLeber＇s hereditary optic neuropathy

作　　者：王影[1] 童绎[2] 王剑勇[3] 邵俊斌 张守康[1] 张洪星[5] 

机构地区：[1]北京中国中医科学院眼科医院,100040 [2]福建医科大学附属第一医院 [3]浙江大学医学院附属第一医院 [4]上海之江生物科技有限公司 [5]济南市第二人民医院

出　　处：《中国实用眼科杂志》2010年第3期298-302,共5页Chinese Journal of Practical Ophthalmology

基　　金：国家中医药管理局基金项目（04-05LP50）

摘　　要：目的探讨LHON线粒体基因突变比率对疾病发生发展的影响。方法利用线粒体荧光比值与量化相关性建立线性关系，对6个G11778A突变位点的Leber病家系44例成员进行外周血突变与野生线粒体荧光比值的测定。并分析患者视力损害程度与线粒体突变比率之间的相关性。结果母系成员中纯突变型外显率远高于杂合子型，外周血中突变型线粒体含量越高患者发病几率越大，患者视力损害程度与线粒体突变比率无相关性。结论外周血线粒体突变比率检测对Leber家系外显率的推测有重要意义。Objective In order to investigate the ratio of mitochondria fluorescence＇s quantification and relative value on the development of LHON （Leber＇ s hereditary optic neuropathy, LHON）.Methods Based on the linear relationship between the ratio of mitochondria fluorescence and fluorescence＇ s quantification, we detected the quantity ratio of mutation and grow wild mtDNA on peripheral blood of 6 pedigrees （44 cases ） of LHON with G11778A mutation, and analyzed the relationship between the impairment of eyesight with the ratio of mutational mitochondria in normal.Results Homoplasmic incidence was higher than the hereoplasmy＇ s.The higher mutation mitochondria, the higher the prevalence rate of disease.There was no relationship between the prevalence of visual impairment of patients＇ eyesight with the ratio of mutation.Conclusions To detect this ratio is very important for suppose phenotypic expression of unaffected carriers.

关 键 词：Leber遗传性视神经萎缩 线粒体疾病 病理机制 

分 类 号：R774.1[医药卫生—眼科]