Leber遗传性视神经病变家系的线粒体基因突变分析  

Analysis of Mitochondrial Gene Mutations in Pedigrees of Leber′s Hereditary Optic Neuropathy

作　　者：林玲[1] 陈贻锴[2] 童绎[3] 郑志[1] 林建银[1] 朱进伟[1] 

机构地区：[1]福建医科大学分子医学研究中心,福州350004 [2]福建医科大学生物医药工程研究中心,福州350004 [3]福建医科大学附属第一医院眼科,福州350005

出　　处：《遗传》2003年第3期267-270,共4页Hereditas（Beijing)

基　　金：福建省自然科学基金资助项目(98Z-172);福建医科大学苗圃基金资助项目(2002M004)

摘　　要：为探讨Leber遗传性视神经病变(Leber′shereditaryopticneuropathy,LHON)家系线粒体DNA(mtDNA)常见致病原发突变的频谱,用聚合酶链反应(polymerasechainreaction,PCR)和单链构象多态性(single strandedconformationalpolymorphism,SSCP)以及DNA测序的方法,对13个家系22位临床诊断为LHON的患者及其母系亲属21人的线粒体DNA进行检测,同时检测71例正常人作为对照。临床拟诊为LHON的13个家系中,11个家系存在mtDNA位点11778G→A突变,另2个家系存在14484位点T→C突变。说明中国LHON病人存在线粒体DNA11778或14484位点突变,其中14484位点突变在国内尚未见报道。The purpose of the study is to investigate the frequency of common pathogenic primary mitochondrial DNA mutations in pedigrees of Leber′s hereditary optic neuropathy (LHON).Mutations were determined by polymerase chain reaction (PCR),singlestranded conformational polymorphism (SSCP) and DNA sequencing.Twentytwo patients with suspicion of LHON and twentyone their maternal relatives underwent molecular genetic evaluation.Seventyone normal individuals underwent molecular genetic evaluation as control at the same time. Members from 13 families with suspicion of LHON,11 families had nucleotide position nt11778 G→A mutations.Another 2 families had nt14484 T→C mutations.It is concluded that the point mutations at nucleotides 11778 and 14484 are primary LHON mutations,but the point mutation of nt14484 is rare in Chinese.

关 键 词：LEBER遗传性视神经病 线粒体基因 突变 线粒体DNA PCR-SSCP 遗传性疾病 

分 类 号：R774.6[医药卫生—眼科]