| 线粒体DNA突变与相关人类疾病 |
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| 引用本文： | 陈刚,杜卫东,曹慧敏.线粒体DNA突变与相关人类疾病[J].遗传,2007,29(11):1299-1308. |
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| 作者姓名： | 陈刚 杜卫东 曹慧敏 |
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| 作者单位： | 1. 安徽医科大学省部共建教育部重要遗传病基因资源利用重点实验室, 安徽省基因研究重点实验室, 合肥 230032;2. 中国科学院上海微系统与信息技术研究所, 上海 200050 ; |
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| 基金项目： | 国家自然科学基金，安徽省自然科学基金，安徽省高校学科拔尖人才基金 |
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| 摘 要： | 在过去的20年里, 人们发现线粒体DNA(mitochondrial DNA, mtDNA)突变与多种人类疾病相关, 其致病范围从单器官组织损害到多系统受累。文章目的在于探讨mtDNA突变与人类疾病的关系。文章重点论述: (1)线粒体遗传学特征; (2) mtDNA突变与人类遗传性疾病; (3)体细胞mtDNA突变在衰老和肿瘤中的作用; (4)mtDNA疾病的诊断和治疗。
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| 关 键 词： | 线粒体疾病 线粒体DNA 突变 诊断 |
| 收稿时间： | 2007-05-25 |
| 修稿时间： | 2007-05-25 |
Mitochondrial DNA mutations and related human dis-eases |
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| CHEN Gang,DU Wei-Dong,CAO Hui-Min.Mitochondrial DNA mutations and related human dis-eases[J].Hereditas,2007,29(11):1299-1308. |
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| Authors: | CHEN Gang DU Wei-Dong CAO Hui-Min |
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| Institution: | 1. Key Lab of Gene Resource Utilization for Severe Hereditary Diseases of Ministry of Education & Key Lab of Genome Research of Anhui Province, Anhui Medical University, Hefei 230032, China;2. Shanghai Institute of Microsystem and Information Technology, Chinese Academy of Science, Shanghai 200050, China ; |
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| Abstract: | In the past two decades, it has been found that mitochondrial DNA (mtDNA) mutations are associated with a wide range of human diseases, from those affecting single organ to those with multi-system involvement. The purpose of this review is to explore the relationship between mtDNA mutations and human diseases. Four aspects are highlighted: characteristics of mitochondrial genetics, mtDNA mutations in human inherited diseases, role of somatic mtDNA mutations in aging and tumor, as well as diagnosis and treatment of mtDNA diseases. |
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| Keywords: | mitochondrial diseases mitochondrial DNA mutation diagnosis |
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