Leber病两家系分析

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 Lebefs 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.