Salas A, Lareu M V, Carracedo A
Institute of Legal Medicine, Faculty of Medicine, University of Santiago de Compostela, C/San Francisco s/n, Spain.
Int J Legal Med. 2001;114(3):186-90. doi: 10.1007/s004140000164.
Mitochondrial DNA (mtDNA) sequencing has been validated as a useful tool for forensic analysis. However, there are several aspects of the analysis which need to be considered in order to evaluate the value of the evidence. One of these aspects is related to heteroplasmy which is the state when two or more mtDNA populations occur in a single individual, cell or mitochondrion. In this report a case is described where the mtDNA profile of the blood sample of a raped woman was compared with the mtDNA profile of a single hair found in the suspect's car. The results obtained show differences in sequence between different portions of the hair and the victim's sequence. These differences are related to various heteroplasmy events. The concordance between the hair sample and the potential source (victim) of this sample is questionable and the strength of the evidence depends on how the sequence information is interpreted by the expert. The discussion of the results emphasises the necessity to evaluate heteroplasmic events in routine forensic work.
线粒体DNA（mtDNA）测序已被确认为法医分析的一项有用工具。然而，为了评估证据的价值，分析中有几个方面需要考虑。其中一个方面与异质性有关，异质性是指在单个个体、细胞或线粒体中出现两种或更多种mtDNA群体的状态。本报告描述了一个案例，将一名被强奸妇女血液样本的mtDNA图谱与在嫌疑人汽车中发现的一根毛发的mtDNA图谱进行了比较。所得结果显示，毛发不同部分与受害者序列之间存在序列差异。这些差异与各种异质性事件有关。毛发样本与其潜在来源（受害者）之间的一致性存在疑问，证据的力度取决于专家对序列信息的解读方式。结果讨论强调了在常规法医工作中评估异质性事件的必要性。
