Comparison of base composition analysis and Sanger sequencing of mitochondrial DNA for four U.S. population groups

Kevin M. Kiesler, Michael D. Coble, Thomas A. Hall, Peter M. Vallone

Research output: Contribution to journalArticle

2 Scopus citations


A set of 711 samples from four U.S. population groups was analyzed using a novel mass spectrometry based method for mitochondrial DNA (mtDNA) base composition profiling. Comparison of the mass spectrometry results with Sanger sequencing derived data yielded a concordance rate of 99.97%. Length heteroplasmy was identified in 46% of samples and point heteroplasmy was observed in 6.6% of samples in the combined mass spectral and Sanger data set. Using discrimination capacity as a metric, Sanger sequencing of the full control region had the highest discriminatory power, followed by the mass spectrometry base composition method, which was more discriminating than Sanger sequencing of just the hypervariable regions. This trend is in agreement with the number of nucleotides covered by each of the three assays.

Original languageEnglish
Pages (from-to)226-232
Number of pages7
JournalForensic Science International: Genetics
Issue number1
Publication statusPublished - 1 Jan 2014



  • DNA sequencing
  • Human identification
  • Mass spectrometry
  • Mitochondrial DNA

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