在人类线粒体疾病研究中，如何有效避免扩增出核DNA中的线粒体假基因，并对偶然扩增的假基因片段予以识别和赋予正确的解释是一个十多年来未完全解决的难题。近期的文献报道中不乏有误将线粒体假基因片段当成真实的线粒体DNA的案例。姚永刚课题组通过和国内外学者合作，研究发现线粒体假基因中的突变图谱和真实的线粒体DNA的突变图谱迥异。通过对相关文献报道的案例进行分析，并结合他们自己的实验数据，显示充分的数据库查询和系统发育分析方法对于识别线粒体假基因非常简便有效。同时他们对在研究中如何规避和识别线粒体假基因总结出相关的方针和措施。该工作近期发表在影响因子为5.535的国际知名刊物《医学遗传学杂志》（Journal of Medical Genetics）上。（Bioon.com）
生物谷推荐原始出处：
Journal of Medical Genetics，doi:10.1136/jmg.2008.059782，Yong-Gang Yao，Hans-Jürgen Bandelt
Pseudo-mitochondrial genome haunts disease studies
Yong-Gang Yao 1*, Qing-Peng Kong 1, Antonio Salas 2 and Hans-Jürgen Bandelt 3
1 Kunming Institute of Zoology, Chinese Academy of Sciences, China
2 Instituto de Medicina Legal, Spain
3 University of Hamburg, Germany
* To whom correspondence should be addressed. E-mail: ygyaozh@gmail.com .
Abstract
The accidental amplification of nuclear mitochondrial pseudogenes (NUMTs) can pose a serious problem for mitochondrial disease studies. We demonstrate that the mutation spectrum left by spurious amplification of a NUMT can be detected because it usually differs from the authentic natural spectrum considerably. We examine the problem introduced by a ND5 gene NUMT that was recorded in a proband with hearing loss as well as other disease studies erroneously reporting NUMT variation as genuine mutations in their patients. We also show that NUMTs can emerge in population genetic studies, as exemplified here by cases in our laboratory and from published sources. Appropriate database searches and a phylogenetic approach can prevent hasty claims for novelty of mitochondrial DNA (mtDNA) variants inadvertently derived from NUMTs and help to direct one to the real source.
