Institute of Legal Medicine, Innsbruck Medical University, Innsbruck, Austria.
Institute of Legal Medicine, University of Munich, Munich, Germany.
Forensic Sci Int Genet. 2013 Dec;7(6):587-592. doi: 10.1016/j.fsigen.2013.05.007. Epub 2013 Sep 18.
In forensic genetics mitochondrial DNA (mtDNA) is usually analyzed by direct Sanger-type sequencing (STS). This method is known to be laborious and sometimes prone to human error. Alternative methods have been proposed that lead to faster results. Among these are methods that involve mass-spectrometry resulting in base composition profiles that are, by definition, less informative than the full nucleotide sequence. Here, we applied a highly automated electrospray ionization mass spectrometry (ESI-MS) system (PLEX-ID) to an mtDNA population study to compare its performance with respect to throughput and concordance to STS. We found that the loss of information power was relatively low compared to the gain in speed and analytical standardization. The detection of point and length heteroplasmy turned out to be roughly comparable between the technologies with some individual differences related to the processes. We confirm that ESI-MS provides a valuable platform for analyzing mtDNA variation that can also be applied in the forensic context.
在法医学遗传学中，通常通过直接 Sanger 测序（STS）分析线粒体 DNA（mtDNA）。众所周知，这种方法既繁琐，有时又容易出错。已经提出了替代方法，这些方法可以更快地得到结果。其中包括涉及质谱的方法，其碱基组成谱的定义不如完整核苷酸序列信息丰富。在这里，我们应用了一种高度自动化的电喷雾电离质谱（ESI-MS）系统（PLEX-ID）进行 mtDNA 群体研究，以比较其在通量和与 STS 一致性方面的性能。我们发现，与速度和分析标准化的提高相比，信息能力的损失相对较低。点和长度异质性的检测结果表明，两种技术之间大致相当，存在一些与处理过程有关的个体差异。我们证实，ESI-MS 为分析 mtDNA 变异提供了一个有价值的平台，也可应用于法医学领域。
