Can the occurrence of rare insertion/deletion polymorphisms in human mtDNA be verified from phylogeny?
文献类型：期刊论文
| 作者 | Yao YG1,3; Kong QP1,3; Sun C1,3; Zhang YP[*]1,2 |
| 刊名 | CHINESE SCIENCE BULLETIN
 |
| 出版日期 | 2003 |
| 卷号 | 48期号:7页码:663-667 |
| 关键词 | mtDNA insertion deletion phylogeny |
| ISSN号 | 1001-6538 |
| 通讯作者 | zhangyp1@263.net.cn |
| 合作状况 | 其它 |
| 英文摘要 | Due to its specific characteristics, such as maternal inheritance and absence of recombination, each mtDNA belongs to certain monophyletic clade in the rooted mtDNA tree (haplogroup) according to the mutations it harbors. Rare mutation (excluding parallel mutation) occurring at multiple times in different haplogroups could thus be a potential reading error according to the mtDNA phylogeny. This experience has been widely used in double-checking the credibility of the rare mutations in human mtDNA sequences. However, no test has been performed so far for the feasibility of applying this strategy to the rare insertion/deletion (indel) events in mtDNA sequences. In this study, we attempted to relate the rare indels in mtDNAs to their haplogroup status in a total of 2352 individuals from 50 populations in China. Our results show that the insertion of A at position 16259 is restricted to a subclade of haplogroup C and can be verified. The other indel polymorphisms, which occur in the repeat of the deleted or inserted nucleotide(s), may not be distinguished from phantom mutations from a phylogenetic point of view. Independently and multiply sequencing the fragment with the indel is the best and the most reliable way for confirmation. |
| 收录类别 | SCI |
| 资助信息 | This work was supported by the Natural Science Foundation of Yunnan Province and the Chinese Academy of Sciences (Grant No. KSCX2-SW-2010) and the National Natural Science Founda- tion of China (Grant No. 30024004). |
| 原文出处 | 200348663.pdf |
| 语种 | 英语 |
| 公开日期 | 2010-08-24 |
| 源URL | [http://159.226.149.42:8088/handle/152453/4097]  |
| 专题 | 昆明动物研究所_分子进化基因组学 昆明动物研究所_分子人类学 昆明动物研究所_重大疾病机理的遗传学 |
| 作者单位 | 1.Kunming Institute of Zoology, Chinese Academy of Sciences, Kun- ming 650223, China 2.Laboratory of Molecular Genetics, LMF, Yunnan University, Kunming 650091, China 3.Graduate School of the Chinese Academy of Sciences, Beijing 100039, China |
| 推荐引用方式 GB/T 7714 | Yao YG,Kong QP,Sun C,et al. Can the occurrence of rare insertion/deletion polymorphisms in human mtDNA be verified from phylogeny?[J]. CHINESE SCIENCE BULLETIN,2003,48(7):663-667. |
| APA | Yao YG,Kong QP,Sun C,&Zhang YP[*].(2003).Can the occurrence of rare insertion/deletion polymorphisms in human mtDNA be verified from phylogeny?.CHINESE SCIENCE BULLETIN,48(7),663-667. |
| MLA | Yao YG,et al."Can the occurrence of rare insertion/deletion polymorphisms in human mtDNA be verified from phylogeny?".CHINESE SCIENCE BULLETIN 48.7(2003):663-667. |
入库方式： OAI收割
来源：昆明动物研究所
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