| Leber遗传性视神经病变家系的线粒体基因突变分析 |
| |
| 引用本文： | 林玲,陈贻锴,童绎,郑志竑,林建银,朱进伟.Leber遗传性视神经病变家系的线粒体基因突变分析[J].遗传,2003,25(3):267-270. |
| |
| 作者姓名： | 林玲 陈贻锴 童绎 郑志竑 林建银 朱进伟 |
| |
| 作者单位： | 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
1.Research Center of Molecular Medicine,Fujian Medical University,Fuzhou 350004,China;
2.Biomedical Engineering Center,Fujian Medical University,Fuzhou 350004,China;
3.Department of Ophthalmology in the First Affiliated Hospital,Fujian Medical University,Fuzhou 350005,China |
| |
| 基金项目： | 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′s hereditary optic neuropathy，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（polymerase chain reaction，PCR）和单链构象多态性（single-stranded conformational polymorphism，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11778 G→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DNA 11778或14484位点突变，其中14484位点突变在国内尚未见报道。
Abstract: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： | PCR-SSCP Key words Leber′s hereditary optic neuropathy 点突变 线粒体DNA Leber遗传性视神经病 |
| 文章编号： | 0253-9772(2003)03-0267-04 |
| 修稿时间： | 2002年6月7日 |
Analysis of Mitochondrial Gene Mutations in Pedigrees of Leber's Hereditary Optic Neuropathy |
| |
| Ling Lin,Yi-Kai Chen,Yi Tong,Zhi-Hong Zheng,Jian-Yin Lin,Jin-Wei Zhu.Analysis of Mitochondrial Gene Mutations in Pedigrees of Leber's Hereditary Optic Neuropathy[J].Hereditas,2003,25(3):267-270. |
| |
| Authors: | Ling Lin Yi-Kai Chen Yi Tong Zhi-Hong Zheng Jian-Yin Lin Jin-Wei Zhu |
| |
| Institution: | Research Center of Molecular Medicine, Fujian Medical University, Fuzhou 350004, China. Linzz@public.fz.fj.cn |
| |
| Abstract: | 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. |
| |
| Keywords: | PCR-SSCP |
| 本文献已被 CNKI 维普 万方数据 等数据库收录！ |
| 点击此处可从《遗传》浏览原始摘要信息 |
| 点击此处可从《遗传》下载免费的PDF全文 |
|
