RT Journal Article
T1 A Statistical Framework for the Interpretation of mtDNA Mixtures: Forensic and Medical Applications
A1 Egeland, Thore
A1 Salas Ellacuriaga, Antonio
AB Background: Mitochondrial DNA (mtDNA) variation is commonly analyzed in a wide range of different biomedicalapplications. Cases where more than one individual contribute to a stain genotyped from some biological material give riseto a mixture. Most forensic mixture cases are analyzed using autosomal markers. In rape cases, Y-chromosome markerstypically add useful information. However, there are important cases where autosomal and Y-chromosome markers fail toprovide useful profiles. In some instances, usually involving small amounts or degraded DNA, mtDNA may be the only usefulgenetic evidence available. Mitochondrial DNA mixtures also arise in studies dealing with the role of mtDNA variation intumorigenesis. Such mixtures may be generated by the tumor, but they could also originate in vitro due to inadvertentcontamination or a sample mix-up.Methods/Principal Findings: We present the statistical methods needed for mixture interpretation and emphasize themodifications required for the more well-known methods based on conventional markers to generalize to mtDNA mixtures.Two scenarios are considered. Firstly, only categorical mtDNA data is assumed available, that is, the variants contributing tothe mixture. Secondly, quantitative data (peak heights or areas) on the allelic variants are also accessible. In cases wherequantitative information is available in addition to allele designation, it is possible to extract more precise information byusing regression models. More precisely, using quantitative information may lead to a unique solution in cases where thequalitative approach points to several possibilities. Importantly, these methods also apply to clinical cases wherecontamination is a potential alternative explanation for the data.Conclusions/Significance: We argue that clinical and forensic scientists should give greater consideration to mtDNA formixture interpretation. The results and examples show that the analysis of mtDNA mixtures contributes substantially toforensic casework and may also clarify erroneous claims made in clinical genetics regarding tumorigenesis.
PB PLOS
YR 2011
FD 2011
LK http://hdl.handle.net/10347/21805
UL http://hdl.handle.net/10347/21805
LA eng
NO Egeland T, Salas A (2011) A Statistical Framework for the Interpretation of mtDNA Mixtures: Forensic and Medical Applications. PLoS ONE 6(10): e26723
NO This project was partially supported by grants from Fundación de Investigación Médica Mutua Madrileña (2008/CL444) and Ministerio de Ciencia e Innovación (SAF2008-02971) (AS)
DS Minerva
RD 24 abr 2026