Leber病两家系分析  

Two pedigrees analysis of Leber disease

作　　者：郑露 胡可 成进魁 杨亚利 胡维琨 

机构地区：[1]荆州市公安县第一人民医院眼科,湖北省434300

出　　处：《江苏医药》2013年第3期301-302,共2页Jiangsu Medical Journal

基　　金：国家自然科学基金资助(30801260)

摘　　要：目的探讨Leber病的临床特征和基因诊断方法。方法采用聚合酶链反应,对两家系2例先证者目的DNA进行扩增,并基因测序,明确突变类型。结果 2例先证者均为Leber病患者,基因突变类型为G11778A。结论基因检测明确两家系2例Leber病患者诊断。Objective To investigate the clinical features of Lebers hereditary optic neuropathy and its genetic diagnosis.Methods mtDNA was isolated from leukocyte of two probands.Gene was amplified by PCR.The type of gene mutation was determined by direct sequencing.Results Two pedigrees were the patients with Leber disease and the type of gene mutation was G11778A.Conclusion Leber disease was diagnosed as Leber disease by gene examination.

关 键 词：LEBER病 基因突变 

分 类 号：R596[医药卫生—内科学]