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

Harald Niederstätter, Michael Dewitt Coble, Petra Grubwieser, Thomas J. Parsons, Walther Parson

Research output: Contribution to journalArticle

11 Scopus citations

Abstract

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.

Original languageEnglish
Pages (from-to)18-23
Number of pages6
JournalInternational Journal of Legal Medicine
Volume120
Issue number1
DOIs
StatePublished - 1 Jan 2006

Keywords

  • Allele proportion assessment
  • Forensic science
  • Heteroplasmy
  • TaqMan assay

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