title: Comparison of base composition analysis and Sanger sequencing of mitochondrial DNA for four U.S. population groups.
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.
authors: National Institute of Standards and Technology, 100 Bureau Drive, Gaithersburg, MD 20899, USA. Electronic address: Kevin.Kiesler@nist.gov.
authors: Kevin M
authors: KM
authors: Kiesler
authors: Michael D
authors: MD
authors: Coble
authors: Thomas A
authors: TA
authors: Hall
authors: Peter M
authors: PM
authors: Vallone
mesh_terms: D001482:Base Composition; D001483:Base Sequence; D017931:DNA Primers; D004272:DNA, Mitochondrial / Q000235:genetics*; D006801:Humans; D013058:Mass Spectrometry; D044382:Population Groups; D017422:Sequence Analysis, DNA; D014481:United States
chemical_list: D017931:DNA Primers; D004272:DNA, Mitochondrial
keywords: DNA sequencing; Human identification; Mass spectrometry; Mitochondrial DNA