Exaggerated Status of "Novel" and "Pathogenic" mtDNA Sequence Variants Due to Inadequate Database Searches
文献类型：期刊论文
| 作者 | Bandelt HJ1; Salas A2; Taylor RW3; Yao YG[*]4,5 |
| 刊名 | HUMAN MUTATION
 |
| 出版日期 | 2009 |
| 卷号 | 30期号:2页码:191-196 |
| 关键词 | MITOMAP Google mtDNA polymorphism pathogenic mutation MT-ND3 MT-TC |
| ISSN号 | 1059-7794 |
| 通讯作者 | ygyaozh@yahoo.com |
| 合作状况 | 其它 |
| 英文摘要 | Given its relative ease, screening the entire mitochondrial DNA (mtDNA) for heteroplasmic or novel homoplasmic mutations has become part of the routine diagnostic workup for the molecular geneticist confronted with a disease case exhibiting clinical and biochemical features of mitochondrial dysfunction. "Novelty" of a given mtDNA variant is most often equated with nonregistration in the extensive MITOMAP database (www.mitomap.org). This practice has led to a number of spurious findings and wrong conclusions concerning the pathogenic status of specific mtDNA mutations, especially in the absence of proper evaluation and pathogenicity scoring. We demonstrate by way of real cases targeting the mt-tRNA(Cys) (MT-TC) gene and a stretch within the MT-ND3 gene, that a straightforward Google search can identify twice as many previously observed mutations than any MITOMAP query could achieve. Further, we reassess the recent rediscovery of m.15287T>C by listing all known occurrences and, where possible, providing the haplogroup context, shedding new light on the potential pathogenicity status of m.15287T>C. |
| 收录类别 | SCI |
| 资助信息 | Wellcome Trust; Newcastle upon Tyne Hospitals Foundation, National Health Service (NHS) Trust; NHS National Commissioning Group (NCG) Rare Mitochondrial Disorders of Adults and Children; Chinese Academy of Sciences. |
| 原文出处 | 2009302191.pdf |
| 语种 | 英语 |
| 公开日期 | 2010-08-24 |
| 源URL | [http://159.226.149.42:8088/handle/152453/6029]  |
| 专题 | 昆明动物研究所_重大疾病机理的遗传学 昆明动物研究所_动物模型与人类重大疾病机理重点实验室 昆明动物研究所_遗传资源与进化国家重点实验室 |
| 作者单位 | 1.Department of Mathematics, University of Hamburg, Hamburg, Germany 2.Unidade de Xene ´tica, Instituto de Medicina Legal, Facultad de Medicina, Universidad de Santiago de Compostela, Galicia, Spain 3.Mitochondrial Research Group, The Medical School, Newcastle University, Newcastle upon Tyne, United Kingdom 4.Key Laboratory of Animal Models and Human Disease Mechanisms, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, Yunnan, China 5.State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, Yunnan, China |
| 推荐引用方式 GB/T 7714 | Bandelt HJ,Salas A,Taylor RW,et al. Exaggerated Status of "Novel" and "Pathogenic" mtDNA Sequence Variants Due to Inadequate Database Searches[J]. HUMAN MUTATION,2009,30(2):191-196. |
| APA | Bandelt HJ,Salas A,Taylor RW,&Yao YG[*].(2009).Exaggerated Status of "Novel" and "Pathogenic" mtDNA Sequence Variants Due to Inadequate Database Searches.HUMAN MUTATION,30(2),191-196. |
| MLA | Bandelt HJ,et al."Exaggerated Status of "Novel" and "Pathogenic" mtDNA Sequence Variants Due to Inadequate Database Searches".HUMAN MUTATION 30.2(2009):191-196. |
入库方式： OAI收割
来源：昆明动物研究所
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