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 John Parsons, Walther Parson

Research output: Contribution to journalArticle

11 Citations (Scopus)

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

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Mitochondrial DNA
Single Nucleotide Polymorphism
Real-Time Polymerase Chain Reaction
Alleles
Polymerase Chain Reaction

All Science Journal Classification (ASJC) codes

  • Pathology and Forensic Medicine

Cite this

Niederstätter, Harald ; Coble, Michael D. ; Grubwieser, Petra ; Parsons, Thomas John ; Parson, Walther. / Characterization of mtDNA SNP typing and mixture ratio assessment with simultaneous real-time PCR quantification of both allelic states. In: International Journal of Legal Medicine. 2006 ; Vol. 120, No. 1. pp. 18-23.
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Characterization of mtDNA SNP typing and mixture ratio assessment with simultaneous real-time PCR quantification of both allelic states. / Niederstätter, Harald; Coble, Michael D.; Grubwieser, Petra; Parsons, Thomas John; Parson, Walther.

In: International Journal of Legal Medicine, Vol. 120, No. 1, 01.01.2006, p. 18-23.

Research output: Contribution to journalArticle

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