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Low “penetrance” of phylogenetic knowledge in mitochondrial disease studies

文献类型：期刊论文

作者Bandelt HJ[*]1; Achilli A2; Kong QP3; Salas A4; Lutz-Bonengel S5; Sun C3; Zhang YP3; Torroni A2; Yao YG3
刊名BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
出版日期2005
卷号333期号:1页码:122-130
关键词mitochondrial DNA phylogeny mitochondrial disease phantom mutation documentation error mitochondrial encephaloneuromyopathy dilated cardiomyopathy nonsyndromic deafness
ISSN号0006-291X
通讯作者bandelt@math.uni-hamburg.de
合作状况其它
英文摘要An up-to-date view of the worldwide mitochondrial DNA (mtDNA) phylogeny together with an evaluation of the conservation of each site is a reliable tool for detecting errors in mtDNA studies and assessing the functional importance of alleged pathogenic mutations. However, most of the published studies on mitochondrial diseases make very little use of the phylogenetic knowledge that is currently available. This drawback has two inadvertent consequences: first, there is no sufficient a posteriori quality assessment of complete mtDNA sequencing efforts; and second, no feedback is provided for the general mtDNA database when apparently new mtDNA lineages are discovered. We demonstrate, by way of example, these issues by reanalysing three mtDNA sequencing attempts, two from Europe and another one from East Asia. To further validate our phylogenetic deductions, we completely sequenced two mtDNAs from healthy subjects that nearly match the mtDNAs of two patients, whose sequences gave problematic results.
收录类别SCI
资助信息This research received support from Progetto CNR- MIUR Genomica Funzionale-Legge 449/97 (to A.T.), the Italian Ministry of the University (Progetti Ricerca Interesse Nazionale 2003) (to A.T.), and Fondo Inves- timenti Ricerca di Base 2001 (to A.T.).
原文出处2005333122.pdf
语种英语
公开日期2010-08-24
源URL[http://159.226.149.42:8088/handle/152453/4173]  
专题昆明动物研究所_分子进化基因组学
昆明动物研究所_分子人类学
昆明动物研究所_重大疾病机理的遗传学
昆明动物研究所_细胞与分子进化重点实验室
作者单位1.Department of Mathematics, University of Hamburg, 20146 Hamburg, Germany
2.Dipartimento di Genetica e Microbiologia, Universita ` di Pavia, 27100 Pavia, Italy
3.Key Laboratory of Cellular and Molecular Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, 650223 Kunming, Yunnan, China
4.Unidad de Xenetica, Instituto de Medicina Legal, Facultad de Medicina, Universidad de Santiago de Compostela, 15782, Centro Nacional de Xenotipado (CeGen), Hospital Clı ´nico Universitario, 15706 Galicia, Spain
5.Institute of Legal Medicine, Albert Ludwig University Freiburg, 79104 Freiburg, Germany
推荐引用方式
GB/T 7714		 Bandelt HJ[*],Achilli A,Kong QP,et al. Low “penetrance” of phylogenetic knowledge in mitochondrial disease studies[J]. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS,2005,333(1):122-130.
APA Bandelt HJ[*].,Achilli A.,Kong QP.,Salas A.,Lutz-Bonengel S.,...&Yao YG.(2005).Low “penetrance” of phylogenetic knowledge in mitochondrial disease studies.BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS,333(1),122-130.
MLA Bandelt HJ[*],et al."Low “penetrance” of phylogenetic knowledge in mitochondrial disease studies".BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS 333.1(2005):122-130.

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来源：昆明动物研究所

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