title: The EDNAP mitochondrial DNA population database (EMPOP) collaborative exercises: organisation, results and perspectives.
abstract: This paper presents an overview of the organisation and the results of the collaborative exercises (CE) of the European DNA Profiling (EDNAP) Group's mitochondrial DNA population database project (EMPOP). The aim of the collaborative exercises was to determine whether uniformity of mtDNA sequencing results could be achieved among different laboratories. These were asked to sequence either the complete mtDNA control region or the two hypervariable regions HVI (16024-16365) and HVII (73-340) from DNA extracts, buccal swabs or bloodstains, proceeding in accordance with the protocol and strategies used in each individual laboratory. The results of the collaborative exercises were employed to identify possible sources of errors that could arise during the analysis and interpretation of mtDNA profiles. These findings were taken as a basis to tentatively make suitable arrangements for the construction of a high quality mtDNA database. One hundred fifty mtDNA profiles were submitted to the evaluating laboratory, and disaccording profiles were classified into four groups corresponding to the source of error: clerical errors, sample mix-ups, contaminations and discrepancies with respect to the mtDNA nomenclature. Overall, 14 disaccording haplotypes (16 individual errors) were observed. The errors included 10 clerical errors, 3 interpretation problems, 2 cases of sample mix-up and 1 case of point heteroplasmic mixture, where the 2 sequencing reactions brought inconsistent base calls. This corresponds to an error rate of 10.7% in a virtual mtDNA database consisting of the collaborative exercise results. However, this estimate is still conservative compared to conclusions drawn by authors of meanwhile numerous publications critically reviewing published mtDNA population databases. Our results and earlier published concerns strongly emphasize the need for appropriate safety regulations when mtDNA profiles are compiled for database purposes in order to accomplish the high standard required for mtDNA databases that are used in the forensic context.
authors.affiliation: Institute of Legal Medicine, Medical University of Innsbruck, Muellerstrasse 44, Innsbruck 6020, Austria. walther.parson@uibk.ac.at
authors.forename: Walther
authors.initials: W
authors.lastname: Parson
authors.forename: Anita
authors.initials: A
authors.lastname: Brandstätter
authors.forename: Antonio
authors.initials: A
authors.lastname: Alonso
authors.forename: Nathalie
authors.initials: N
authors.lastname: Brandt
authors.forename: Bernd
authors.initials: B
authors.lastname: Brinkmann
authors.forename: Angel
authors.initials: A
authors.lastname: Carracedo
authors.forename: Daniel
authors.initials: D
authors.lastname: Corach
authors.forename: Olivier
authors.initials: O
authors.lastname: Froment
authors.forename: Ivana
authors.initials: I
authors.lastname: Furac
authors.forename: Tomasz
authors.initials: T
authors.lastname: Grzybowski
authors.forename: Karin
authors.initials: K
authors.lastname: Hedberg
authors.forename: Christine
authors.initials: C
authors.lastname: Keyser-Tracqui
authors.forename: Tomasz
authors.initials: T
authors.lastname: Kupiec
authors.forename: Sabine
authors.initials: S
authors.lastname: Lutz-Bonengel
authors.forename: Bente
authors.initials: B
authors.lastname: Mevag
authors.forename: Rafal
authors.initials: R
authors.lastname: Ploski
authors.forename: Hermann
authors.initials: H
authors.lastname: Schmitter
authors.forename: Peter
authors.initials: P
authors.lastname: Schneider
authors.forename: Denise
authors.initials: D
authors.lastname: Syndercombe-Court
authors.forename: Eric
authors.initials: E
authors.lastname: Sørensen
authors.forename: Heather
authors.initials: H
authors.lastname: Thew
authors.forename: Gillian
authors.initials: G
authors.lastname: Tully
authors.forename: Richard
authors.initials: R
authors.lastname: Scheithauer
mesh_terms: D019411:Clinical Laboratory Techniques / Q000592:standards*; D003299:Cooperative Behavior; D017931:DNA Primers; D004272:DNA, Mitochondrial / Q000235:genetics*; D030561:Databases, Nucleic Acid; D005554:Forensic Medicine / Q000592:standards*; D005828:Genetics, Population; D006801:Humans; D016133:Polymerase Chain Reaction / Q000379:methods; D011786:Quality Control; D017422:Sequence Analysis, DNA / Q000592:standards
chemical_list: D017931:DNA Primers; D004272:DNA, Mitochondrial