Low "penetrance" of phylogenetic knowledge in mitochondrial disease studies
Low "penetrance" of phylogenetic knowledge in mitochondrial disease studies
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DOI：
10.1016/j.bbrc.2005.04.055
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发表时间：
2005-07-22
影响因子：
3.1
通讯作者：
Yao, YG
中科院分区：
文献类型：
--
作者：
Bandelt, HJ;Achilli, A;Yao, YG
全球线粒体 DNA (mtDNA) 系统发育的最新视图以及对每个位点保护的评估是检测 mtDNA 研究中的错误和评估所谓致病突变的功能重要性的可靠工具。然而，大多数已发表的关于线粒体疾病的研究很少利用目前可用的系统发育知识。这一缺点会带来两个无意的后果：首先，对完整的 mtDNA 测序工作没有充分的事后质量评估；其次，当发现明显新的线粒体DNA谱系时，不会向通用线粒体DNA数据库提供反馈。我们通过重新分析三项 mtDNA 测序尝试（两项来自欧洲，另一项来自东亚）来举例说明这些问题。为了进一步验证我们的系统发育推论，我们对来自健康受试者的两个 mtDNA 进行了完整测序，这两个 mtDNA 几乎与两个患者的 mtDNA 相匹配，而这两个患者的序列给出了有问题的结果。 (c) 2005 Elsevier Inc. 保留所有权利。
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. (c) 2005 Elsevier Inc. All rights reserved.