Abstract
A collaborative European DNA Profiling (EDNAP) Group exercise was undertaken to assess
the performance of an earlier described SNaPshot™-based screening assay (denoted mini-mtSNaPshot)
(Weiler et al., 2016) [1] that targets 18 single nucleotide polymorphism (SNP) positions
in the mitochondrial (mt) DNA control region and allows for discrimination of major
European mtDNA haplogroups. Besides the organising laboratory, 14 forensic genetics
laboratories were involved in the analysis of 13 samples, which were centrally prepared
and thoroughly tested prior to shipment. The samples had a variable complexity and
comprised straightforward single-source samples, samples with dropout or altered peak
sizing, a point heteroplasmy and two-component mixtures resulting in one to five bi-allelic
calls. The overall success rate in obtaining useful results was high (97.6%) given
that some of the participating laboratories had no previous experience with the typing
technology and/or mtDNA analysis. The majority of the participants proceeded to haplotype
inference to assess the feasibility of assigning a haplogroup and checking phylogenetic
consistency when only 18 SNPs are typed. To mimic casework procedures, the participants
compared the SNP typing data of all 13 samples to a set of eight mtDNA reference profiles
that were described according to standard nomenclature (Parson et al., 2014) [2],
and indicated whether these references matched each sample or not. Incorrect scorings
were obtained for 2% of the comparisons and derived from a subset of the participants,
indicating a need for training and guidelines regarding mini-mtSNaPshot data interpretation.
Keywords
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Article info
Publication history
Published online: October 24, 2016
Accepted:
October 23,
2016
Received in revised form:
October 4,
2016
Received:
July 15,
2016
Identification
Copyright
© 2016 Elsevier Ireland Ltd. All rights reserved.
