Exaggerated Status of "Novel" and "Pathogenic" mtDNA Sequence Variants Due to Inadequate Database Searches

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	Exaggerated Status of "Novel" and "Pathogenic" mtDNA Sequence Variants Due to Inadequate Database Searches
	Bandelt HJ 1; Salas A 2; Taylor RW 3; Yao YG[*]4,5; ygyaozh@yahoo.com
	2009
发表期刊	HUMAN MUTATION
ISSN	1059-7794
卷号	30 期号:2 页码:191-196
合作性质	其它
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.
关键词	Mitomap Google Mtdna Polymorphism Pathogenic Mutation Mt-nd3 Mt-tc
资助者	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. ; 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. ; 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. ; 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.
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收录类别	SCI
语种	英语
资助者	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. ; 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. ; 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. ; 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.
文献类型	期刊论文
条目标识符	http://ir.kiz.ac.cn/handle/152453/6029
专题	科研部门_疾病机理遗传学和进化医学学科组（姚永刚）科研部门_动物模型与人类重大疾病机理重点实验室遗传资源与进化国家重点实验室
通讯作者	ygyaozh@yahoo.com
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[*],&ygyaozh@yahoo.com.(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.

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