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Showing content from https://link.springer.com/doi/10.1007/s00414-005-0024-3 below:

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

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.

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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.

1. Michael D. Coble

   Present address: Biotechnology Division, National Institute of Standards and Technology, 100 Bureau Drive, Mail Stop 8311, Gaithersburg, MD, 20899, USA

1. Institute of Legal Medicine, Innsbruck Medical University, Müllerstrasse 44, 6020, Innsbruck, Austria

   Harald Niederstätter, Petra Grubwieser & Walther Parson

2. Armed Forces DNA Identification Laboratory, Armed Forces Institute of Pathology, Building 101, 1413 Research Blvd., Rockville, MD, 20850, USA

   Michael D. Coble & Thomas J. Parsons

1. Harald Niederstätter
2. Michael D. Coble
3. Petra Grubwieser
4. Thomas J. Parsons
5. Walther Parson

Correspondence to Walther Parson.

Niederstätter, H., Coble, M.D., Grubwieser, P. et al. Characterization of mtDNA SNP typing and mixture ratio assessment with simultaneous real-time PCR quantification of both allelic states. Int J Legal Med 120, 18–23 (2006). https://doi.org/10.1007/s00414-005-0024-3

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• Received: 10 March 2005

• Accepted: 04 July 2005

• Published: 09 August 2005

• Issue Date: January 2006

• DOI: https://doi.org/10.1007/s00414-005-0024-3

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