| High penetrance of sequencing errors and interpretative shortcomings in mtDNA sequence analysis of LHON patients | |
| Bandelt HJ*1; Yao YG2; Salas A3,4; Kivisild T5; Bravi CM6; bandelt@math.uni-hamburg.de | |
| 2007 | |
| 发表期刊 | BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
 |
| ISSN | 0006-291X |
| 卷号 | 352期号:2页码:283-291 |
| 合作性质 | 其它 |
| 摘要 | For identifying mutation(s) that are potentially pathogenic it is essential to determine the entire mitochondrial DNA (mtDNA) sequences from patients suffering from a particular mitochondrial disease, such as Leber hereditary optic neuropathy (LHON). However, such sequencing efforts can, in the worst case, be riddled with errors by imposing phantom mutations or misreporting variant nucleotides, and moreover, by inadvertently regarding some mutations as novel and pathogenic, which are actually known to define minor haplogroups. Under such circumstances it remains unclear whether the disease-associated mutations would have been determined adequately. Here, we re-analyse four problematic LHON studies and propose guidelines by which some of the pitfalls could be avoided. |
| 关键词 | Lhon Haplogroup Phantom Mutation Documentation Error Mitomap |
| 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/152453/6003 |
| 专题 | 科研部门_疾病机理遗传学和进化医学学科组（姚永刚） 细胞与分子进化重点实验室 |
| 通讯作者 | bandelt@math.uni-hamburg.de |
| 作者单位 | 1.Department of Mathematics, University of Hamburg, 20146 Hamburg, Germany 2.Key Laboratory of Cellular and Molecular Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, 650223 Kunming, Yunnan, China 3.Unidad de Gene ´tica, Instituto de Medicina Legal, Facultad de Medicina, Universidad de Santiago de Compostela, 15782 Galicia, Spain 4.Centro Nacional de Genotipado (CeGen), Hospital Clınico Universitario, 15706 Galicia, Spain 5.Estonian Biocentre and Tartu University, 51010 Tartu, Estonia 6.Laboratorio de Genetica Molecular Poblacional, Instituto Multidisciplinario de Biologı ´a Celular (IMBICE), La Plata, Argentina |
| 推荐引用方式 GB/T 7714 | Bandelt HJ*,Yao YG,Salas A,et al. High penetrance of sequencing errors and interpretative shortcomings in mtDNA sequence analysis of LHON patients[J]. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS,2007,352(2):283-291. |
| APA | Bandelt HJ*,Yao YG,Salas A,Kivisild T,Bravi CM,&bandelt@math.uni-hamburg.de.(2007).High penetrance of sequencing errors and interpretative shortcomings in mtDNA sequence analysis of LHON patients.BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS,352(2),283-291. |
| MLA | Bandelt HJ*,et al."High penetrance of sequencing errors and interpretative shortcomings in mtDNA sequence analysis of LHON patients".BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS 352.2(2007):283-291. |
| 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 | ||
| 2007352283.pdf（474KB） | 期刊论文 | 出版稿 | 开放获取 | CC BY-NC-SA | 请求全文 | |
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