International Journal of Legal Medicine

, Volume 120, Issue 1, pp 18–23 | Cite as

Characterization of mtDNA SNP typing and mixture ratio assessment with simultaneous real-time PCR quantification of both allelic states

  • Harald Niederstätter
  • Michael D. Coble
  • Petra Grubwieser
  • Thomas J. Parsons
  • Walther Parson
Original Article


We performed a study on the forensic utility of allele-discriminatory quantitative real-time PCR (rtPCR) using Minor Groove Binder TaqMan probes, targeting the highly variable mitochondrial single nucleotide polymorphism 16519T/C. The apparent single-cycle PCR efficiency was virtually 100% for both 16519 alleles. The allele designations made by rtPCR were concordant with the results obtained in a previous study by sequencing analysis. In heteroplasmic samples, minor allele proportions down to 9% were unambiguously detected and quantified. The variation in allele proportion estimates was essentially the same within and between different rtPCR runs, and the differences between total copy number estimates found for rerun samples were comparable to those found with non-allele-discriminatory quantitative rtPCR assays.


Heteroplasmy Allele proportion assessment TaqMan assay Forensic science 



Part of this work was supported by National Institute of Justice grant 2000-1J-CX-K010 to T.J.P. The opinions and assertions contained herein are solely those of the authors and are not to be construed as official or as views of the U.S. Department of Defense, the U.S. Department of the Army, or the U.S. Department of Justice.


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Copyright information

© Springer-Verlag 2005

Authors and Affiliations

  • Harald Niederstätter
    • 1
  • Michael D. Coble
    • 2
  • Petra Grubwieser
    • 1
  • Thomas J. Parsons
    • 2
  • Walther Parson
    • 1
  1. 1.Institute of Legal MedicineInnsbruck Medical UniversityInnsbruckAustria
  2. 2.Armed Forces DNA Identification LaboratoryArmed Forces Institute of PathologyRockvilleUSA

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