Department of Mathematics, University of Hamburg, 20146 Hamburg, Germany.
Forensic Sci Int Genet. 2012 Jan;6(1):143-5. doi: 10.1016/j.fsigen.2011.04.004. Epub 2011 May 11.
In a Nature paper of 2010, the concern was raised that intra-individual mtDNA variation may be more pronounced than previously believed, in that heteroplasmies are common and vary markedly from tissue to tissue. This claim taken at face value would have considerable impact on forensic casework. It turns out however that the employed technology detected the germ-line variation relative to the reference sequence only incompletely: on average at least five mutations were missed per sample, as an in silico reassessment of the data reveals. Before one can really set out to access to entire mtDNA genome data with relative ease for forensic purposes, one needs careful calibration studies under strict forensic conditions-or might have to wait for another generation.
在 2010 年的《自然》杂志上的一篇论文中，人们提出担忧，即个体内的线粒体 DNA 变异可能比之前认为的更为明显，因为异质性很常见，而且在不同组织之间差异显著。如果从表面上接受这一说法，将对法医学案件产生重大影响。然而，事实证明，所采用的技术仅不完全地检测到与参考序列相对的种系变异：实际上，对数据的重新评估显示，每个样本平均至少遗漏了五个突变。在真正能够相对轻松地为法医学目的获取整个 mtDNA 基因组数据之前，需要在严格的法医条件下进行仔细的校准研究——或者可能需要等待下一代技术。
