| Phantom mutation hotspots in human mitochondrial DNA | |
| Brandstatter A1; Sanger T2; Lutz-Bonengel S2; Parson W1; Beraud-Colomb E3; Wen B4; Kong QP5; Bravi CM6; Bandelt HJ*7; bandelt@math.uni-hamburg.de | |
| 2005 | |
| 发表期刊 | ELECTROPHORESIS
 |
| ISSN | 0173-0835 |
| 卷号 | 26期号:18页码:3414-3429 |
| 合作性质 | 其它 |
| 摘要 | Phantom mutations are systematic artifacts generated in the course of the sequencing process. Contra common belief these artificial mutations are nearly ubiquitous in sequencing results, albeit at frequencies that may vary dramatically. The amount of artifacts depends not only on the sort of automated sequencer and sequencing chemistry employed, but also on other lab-specific factors. An experimental study executed on four samples under various combinations of sequencing conditions revealed a number of phantom mutations occurring at the same sites of mitochondrial DNA (mtDNA) repeatedly. To confirm these and identify further hotspots for artifacts, > 5000 mtDNA electropherograms were screened for artificial patterns. Further, > 30000 published hypervariable segment 1 sequences were compared at potential hotspots for phantom mutations, especially for variation at positions 16085 and 16197. Resequencing of several samples confirmed the artificial nature of these and other polymorphisms in the original publications. Single-strand sequencing, as typically executed in medical and anthropological studies, is thus highly vulnerable to this kind of artifacts. In particular, phantom mutation hotspots could easily lead to misidentification of somatic mutations and to misinterpretations in all kinds of clinical mtDNA studies. |
| 关键词 | Automated Sequencing Hotspot Mtdna Phantom Mutation Sequencing Error |
| URL | 查看原文 |
| 收录类别 | SCI |
| 语种 | 英语 |
| 文献类型 | 期刊论文 |
| 条目标识符 | http://ir.kiz.ac.cn/handle/152453/4775 |
| 专题 | 科研部门_分子人类学（孔庆鹏） 细胞与分子进化开放实验室 |
| 通讯作者 | bandelt@math.uni-hamburg.de |
| 作者单位 | 1.Institute of Legal Medicine, Innsbruck Medical University, Innsbruck, Austria 2.Institute of Legal Medicine, University of Freiburg, Freiburg, Germany 3.Laboratoire d’Immunologie, Hôpital de Sainte-Marguerite, Marseille, France 4.Center for Anthropological Studies, School of Life Sciences, Fudan University, Shanghai, P.R. China 5.Laboratory of Cellular and Molecular Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, Yunnan, P.R. China 6.Laboratorio de Genética Molecular Poblacional, Insituto Multidisciplinario de Biologia Celular (IMBICE), La Plata, Argentina 7.Department of Mathematics, University of Hamburg, Hamburg, Germany |
| 推荐引用方式 GB/T 7714 | Brandstatter A,Sanger T,Lutz-Bonengel S,et al. Phantom mutation hotspots in human mitochondrial DNA[J]. ELECTROPHORESIS,2005,26(18):3414-3429. |
| APA | Brandstatter A.,Sanger T.,Lutz-Bonengel S.,Parson W.,Beraud-Colomb E.,...&bandelt@math.uni-hamburg.de.(2005).Phantom mutation hotspots in human mitochondrial DNA.ELECTROPHORESIS,26(18),3414-3429. |
| MLA | Brandstatter A,et al."Phantom mutation hotspots in human mitochondrial DNA".ELECTROPHORESIS 26.18(2005):3414-3429. |
| 条目包含的文件 | ||||||
| 文件名称/大小 | 文献类型 | 版本类型 | 开放类型 | 使用许可 | ||
| 2005263414.pdf（1192KB） | 期刊论文 | 出版稿 | 开放获取 | CC BY-NC-SA | 请求全文 | |
除非特别说明，本系统中所有内容都受版权保护，并保留所有权利。
修改评论