The EDNAP mitochondrial DNA population database (EMPOP) collaborative exercises: organisation, results and perspectives.
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.
Parson
Walther
W
Institute of Legal Medicine, Medical University of Innsbruck, Muellerstrasse 44, Innsbruck 6020, Austria. walther.parson@uibk.ac.at
Brandstätter
Anita
A
Alonso
Antonio
A
Brandt
Nathalie
N
Brinkmann
Bernd
B
Carracedo
Angel
A
Corach
Daniel
D
Froment
Olivier
O
Furac
Ivana
I
Grzybowski
Tomasz
T
Hedberg
Karin
K
Keyser-Tracqui
Christine
C
Kupiec
Tomasz
T
Lutz-Bonengel
Sabine
S
Mevag
Bente
B
Ploski
Rafal
R
Schmitter
Hermann
H
Schneider
Peter
P
Syndercombe-Court
Denise
D
Sørensen
Eric
E
Thew
Heather
H
Tully
Gillian
G
Scheithauer
Richard
R
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
D017931:DNA Primers; D004272:DNA, Mitochondrial