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Mass Spectrometric Base Composition Profiling: Implications for Forensic mtDNA Databasing

NCJ Number
246433
Journal
Forensic Science International: Genetics Volume: 7 Issue: 6 Dated: December 2013 Pages: 587-592
Author(s)
Mayra Eduardoff; Gabriela Huber; Birgit Bayer; Dagmar Schmid; Katja Anslinger; Tanja Göbel; Bettina Zimmermann; Peter M. Schneider; Alexander W. Röck; Walther Parson
Date Published
December 2013
Length
6 pages
Annotation
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.
Abstract
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.