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

doi:10.1016/j.fsigen.2013.10.003

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 journal › Article › peer-review

4 Scopus citations

Abstract

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 language	English
Pages (from-to)	226-232
Number of pages	7
Journal	Forensic Science International: Genetics
Volume	8
Issue number	1
DOIs	https://doi.org/10.1016/j.fsigen.2013.10.003
State	Published - 1 Jan 2014

Keywords

DNA sequencing
Human identification
Mass spectrometry
Mitochondrial DNA

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10.1016/j.fsigen.2013.10.003

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abstract = "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.",

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AB - 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.

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

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Keywords

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