Mass spectrometric base composition profiling: Implications for forensic mtDNA databasing.
In forensic genetics mitochondrial DNA (mtDNA) is usually analyzed by direct Sanger-type sequencing (STS). This method is known to be laborious and sometimes prone to human error. Alternative methods have been proposed that lead to faster results. Among these are methods that involve mass-spectrometry resulting in base composition profiles that are, by definition, less informative than the full nucleotide sequence. Here, we applied a highly automated electrospray ionization mass spectrometry (ESI-MS) system (PLEX-ID) to an mtDNA population study to compare its performance with respect to throughput and concordance to STS. We found that the loss of information power was relatively low compared to the gain in speed and analytical standardization. The detection of point and length heteroplasmy turned out to be roughly comparable between the technologies with some individual differences related to the processes. We confirm that ESI-MS provides a valuable platform for analyzing mtDNA variation that can also be applied in the forensic context.
Institute of Legal Medicine, Innsbruck Medical University, Innsbruck, Austria.
Mayra
M
Eduardoff
Institute of Legal Medicine, Innsbruck Medical University, Innsbruck, Austria.
Gabriela
G
Huber
Institute of Legal Medicine, University of Munich, Munich, Germany.
Birgit
B
Bayer
Institute of Legal Medicine, University of Munich, Munich, Germany.
Dagmar
D
Schmid
Institute of Legal Medicine, University of Munich, Munich, Germany.
Katja
K
Anslinger
Institute of Legal Medicine, Faculty of Medicine, University of Cologne, Cologne, Germany.
Tanja
T
Göbel
Institute of Legal Medicine, Innsbruck Medical University, Innsbruck, Austria.
Bettina
B
Zimmermann
Institute of Legal Medicine, Faculty of Medicine, University of Cologne, Cologne, Germany.
Peter M
PM
Schneider
Institute of Legal Medicine, Innsbruck Medical University, Innsbruck, Austria.
Alexander W
AW
Röck
Institute of Legal Medicine, Innsbruck Medical University, Innsbruck, Austria; Eberly College of Science, Penn State University, University Park, PA, USA. Electronic address: walther.parson@i-med.ac.at.
Walther
W
Parson
D001482:Base Composition; D004272:DNA, Mitochondrial / Q000235:genetics*; D030541:Databases, Genetic; D053803:Forensic Genetics; D006801:Humans; D021241:Spectrometry, Mass, Electrospray Ionization / Q000379:methods*
D004272:DNA, Mitochondrial
Length heteroplasmy; Mass spectrometry; Mitochondrial DNA; Point heteroplasmy; Sanger-type sequencing