《生命科学》 2008, 20(4):

人类线粒体DNA世系的系统发育关系研究

孔庆鹏1,2*, 张亚平1,2

（1 中国科学院昆明动物研究所遗传资源与进化国家重点实验室，昆明 650223; 2 云南大学生物资源保护与利用重点实验室，昆明 650091）

摘　要：摘　要：本文以人类线粒体DNA为例，回顾了其系统发育关系的重建的研究历史，进而总结介绍了该分析方法在人类进化历史研究、线粒体DNA数据质量评估以及疾病相关线粒体DNA突变的甄别等方面的应用，以期对该方法在国内的推广应用有所裨益。
关键词：线粒体DNA；系统发育关系；世系；突变
中图分类号：Q75；Q987　　文献标识码：A

Phylogeny of human mitochondrial DNA lineages and its applications

KONG Qing-peng1,2*, ZHANG Ya-ping1,2

(1 State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming 650223, China; 2 Laboratory for Conservation and Utilization of Bio-resource, Yunnan University, Kunming 650091, China)

Abstract: Abstract: With the special intention to introduce the most widely adopted phylogenetic analysis human mitochondrial DNA (mtDNA)studies,  the history of the reconstruction of mtDNA phylogeny was reviewed.  And the applications of human mtDNA phylogeny in studying human evolution,  estimating the quality of mtDNA data,  and distilling the disease-associated mtDNA mutation were then summarized in the present review.
Key words: mitochondrial DNA; phylogeny; lineage; mutation