中国科学院机构知识库网格
Chinese Academy of Sciences Institutional Repositories Grid
首页 机构 成果 学者
  
  1. CAS IR Grid
  2. 昆明动物研究所
  3. 昆明动物研究所
  4. 遗传资源与进化国家重点实验室
  5. 分子人类学
Phantom mutation hotspots in human mitochondrial DNA

文献类型：期刊论文

作者Brandstatter A1; Sanger T2; Lutz-Bonengel S2; Parson W1; Beraud-Colomb E3; Wen B4; Kong QP5; Bravi CM6; Bandelt HJ[*]7
刊名ELECTROPHORESIS
出版日期2005
卷号26期号:18页码:3414-3429
关键词automated sequencing hotspot mtDNA phantom mutation sequencing error
ISSN号0173-0835
通讯作者bandelt@math.uni-hamburg.de
合作状况其它
英文摘要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.
收录类别SCI
原文出处2005263414.pdf
语种英语
公开日期2010-08-24
源URL[http://159.226.149.42:8088/handle/152453/4775]  
专题昆明动物研究所_分子人类学
昆明动物研究所_细胞与分子进化开放实验室
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 HJ[*].(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.

入库方式： OAI收割

来源：昆明动物研究所

浏览0
下载0
收藏0
其他版本

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。