Massively parallel sequencing-enabled mixture analysis of mitochondrial DNA samples

Jennifer D. Churchill, Monika Stoljarova, Jonathan L. King, Bruce Budowle

Research output: Contribution to journalArticlepeer-review

31 Scopus citations


The mitochondrial genome has a number of characteristics that provide useful information to forensic investigations. Massively parallel sequencing (MPS) technologies offer improvements to the quantitative analysis of the mitochondrial genome, specifically the interpretation of mixed mitochondrial samples. Two-person mixtures with nuclear DNA ratios of 1:1, 5:1, 10:1, and 20:1 of individuals from different and similar phylogenetic backgrounds and three-person mixtures with nuclear DNA ratios of 1:1:1 and 5:1:1 were prepared using the Precision ID mtDNA Whole Genome Panel and Ion Chef, and sequenced on the Ion PGM or Ion S5 sequencer (Thermo Fisher Scientific, Waltham, MA, USA). These data were used to evaluate whether and to what degree MPS mixtures could be deconvolved. Analysis was effective in identifying the major contributor in each instance, while SNPs from the minor contributor’s haplotype only were identified in the 1:1, 5:1, and 10:1 two-person mixtures. While the major contributor was identified from the 5:1:1 mixture, analysis of the three-person mixtures was more complex, and the mixed haplotypes could not be completely parsed. These results indicate that mixed mitochondrial DNA samples may be interpreted with the use of MPS technologies.

Original languageEnglish
Pages (from-to)1263-1272
Number of pages10
JournalInternational journal of legal medicine
Issue number5
StatePublished - 1 Sep 2018


  • Ion PGM
  • Ion S5
  • Massively parallel sequencing
  • Mitochondrial DNA
  • Mixtures


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