动物线粒体基因组测序方法的研究进展  

Research progress of sequencing method for animal mitochondrial genome

作　　者：李天杰[1] 曹延祥 赵红翠[1,3,4] 于洋[1,3,4] 乔杰[1,3,4] 

机构地区：[1]北京大学第三医院妇产科生殖医学中心,100191 [2]解放军医学院 [3]教育部辅助生殖重点实验室 [4]北京市生殖内分泌与辅助生殖重点实验室

出　　处：《天津医药》2016年第6期796-800,共5页Tianjin Medical Journal

基　　金：国家自然科学基金资助项目(31371521)

摘　　要：线粒体是具有独特DNA分子和完整遗传信息传递与表达系统的一类细胞器,参与能量代谢、信号转导、细胞凋亡等许多生命活动。线粒体DNA突变与线粒体疾病的发生密切相关,广泛应用于分子生物学、遗传学、法医学鉴定等各个方面。因此,线粒体基因组测序对于其结构功能的研究有重要价值。本文综述了线粒体基因组测序方法的研究进展,重点是第一代基因测序技术、聚合酶链反应(PCR)技术、第二代基因测序技术,以及滚环扩增技术和线粒体间接测序,并对每种方法的优缺点进行了总结,归纳了线粒体假基因对线粒体基因组分析过程中的干扰和处理策略。Mitochondria, the power house of cells, are important organelles in eukaryotic cells. Having their own unique and complete DNA (mtDNA) and genetic system, mitochondria play an essential role in cellular energy metabolism, intracel?lular signaling and apoptotic pathways, as well as many other biological functions, which are closely related with cellular met?abolic network. A disruption of mitochondrial genes can therefore result in mitochondrial dysfunction and human diseases, thus they have been widely used in molecular biology, development biology, genetics, forensic identification and clinical diag?nosis. Consequently, sequencing mitochondrial genome has shown great significance in mitochondrial structure and function research. In this review, research progress in mitochondrial genome sequencing method is summarized, mainly focusing on Sanger sequencing, long-PCR and next-generation sequencing. Also rolling circle amplification and indirect sequencing of mtDNA are reviewed. The ambiguities caused by numts in indirect sequencing are mentioned and resolved.

关 键 词：基因组 线粒体 序列分析 DNA 基因扩增 第二代测序 线粒体假基因 长PCR 

分 类 号：R394-3[医药卫生—医学遗传学]