Highlights
- •DNA analysis from skeletal remains is crucial for missing person identification.
- •STR profiling is only suitable if ante-mortem samples or relatives are available.
- •If unavailable, appearance DNA prediction can provide leads to find relatives.
- •The HIrisPlex system allows eye and hair colour prediction from DNA.
- •We find HIrisPlex suitable for analysing remains of World War II victims.
Abstract
Retrieving information about externally visible characteristics from DNA can provide
investigative leads to find unknown perpetrators, and can also help in disaster victim
and other missing person identification cases. Aiming for the application to both
types of forensic casework, we previously developed and forensically validated the
HIrisPlex test system enabling parallel DNA prediction of eye and hair colour. Although
a recent proof-of-principle study demonstrated the general suitability of the HIrisPlex
system for successfully analysing DNA from bones and teeth of various storage times
and conditions, practical case applications to human remains are scarce. In this study,
we applied the HIrisPlex system to 49 DNA samples obtained from bones or teeth of
World War II victims excavated at six sites, mostly mass graves, in Slovenia. PCR-based
DNA quantification ranged from 4 pg/μl to 313 pg/μl and on an average was 41 pg/μl across all samples. All 49 samples generated complete HIrisPlex profiles with
the exception of one MC1R DNA marker (N29insA) missing in 83.7% of the samples. In
44 of the 49 samples (89.8%) complete 15-loci autosomal STR (plus amelogenin) profiles
were obtained. Of 5 pairs of skeletal remains for which STR profiling suggested an
origin in the same individuals, respectively, 4 showed the same HIrisPlex profiles
and predicted eye and hair colours, respectively, while discrepancies in one pair
(sample 26 and 43) are likely to be explained by DNA quantity and quality issues observed
in sample 43. Sample 43 had the lowest DNA concentration of only 4 pg/μl, producing least reliable STR results and could be misleading in concluding
that samples 43 and 26 originate from the same individual. The HIrisPlex-predicted
eye and hair colours from two skeletal samples, suggested to derive from two brothers
via STR profiling together with a living sister, were confirmed by the living sister's
report. Overall, we demonstrate that after more than 70 years, HIrisPlex-based eye
and hair colour prediction from skeletal remains is feasible with high success rate.
Our results further encourage the use of the HIrisPlex system in missing person/disaster
victim identification to aid the identification process in cases where ante-mortem
samples or putative relatives are not directly available, and DNA predicted eye and
hair colour information provides leads for locating them, allowing STRbased individual
identification.
Keywords
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Article info
Publication history
Published online: October 06, 2016
Accepted:
October 6,
2016
Received in revised form:
September 26,
2016
Received:
March 24,
2016
Identification
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© 2016 Elsevier Ireland Ltd. All rights reserved.
