线粒体DNA突变与相关人类疾病

陈刚，杜卫东，曹慧敏

doi:10.1360/yc-007-1299

遗传 >

2007 , Vol. 29 >Issue 11: 1299 - 1299―1308

DOI: https://doi.org/10.1360/yc-007-1299

综述

线粒体DNA突变与相关人类疾病

展开

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

收稿日期: 2007-05-25

修回日期: 2007-09-25

网络出版日期: 2007-11-10

收起

Mitochondrial DNA mutations and related human dis-eases

Expand

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

Received date: 2007-05-25

Revised date: 2007-09-25

Online published: 2007-11-10

Fold

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。

关键词： 线粒体疾病; 线粒体DNA; 突变; 诊断

本文引用格式

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 -1299―1308 . DOI: 10.1360/yc-007-1299

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.

Options

文章导航

〈

〉

www.chinagene.cn
备案号：京ICP备09063187号-4
总访问:,今日访问:,当前在线:

模态框（Modal）标题

摘要

本文引用格式

Abstract