Highlights
- •We introduce the HIrisPlex-S system for eye, hair, and skin colour prediction from DNA.
- •HIrisPlex-S consists of a novel 17-plex and the previous 24-plex HIrisPlex assay.
- •In forensic validation testing, the 17-plex performed similarly to the 24-plex assay.
- •HIrisPlex-S consists of three prediction models for eye, hair, and skin colour.
- •https://hirisplex.erasmusmc.nl/ provides eye, hair, skin colour probabilities from genotypes.
Abstract
Forensic DNA Phenotyping (FDP), i.e. the prediction of human externally visible traits
from DNA, has become a fast growing subfield within forensic genetics due to the intelligence
information it can provide from DNA traces. FDP outcomes can help focus police investigations
in search of unknown perpetrators, who are generally unidentifiable with standard
DNA profiling. Therefore, we previously developed and forensically validated the IrisPlex
DNA test system for eye colour prediction and the HIrisPlex system for combined eye
and hair colour prediction from DNA traces. Here we introduce and forensically validate
the HIrisPlex-S DNA test system (S for skin) for the simultaneous prediction of eye,
hair, and skin colour from trace DNA. This FDP system consists of two SNaPshot-based
multiplex assays targeting a total of 41 SNPs via a novel multiplex assay for 17 skin
colour predictive SNPs and the previous HIrisPlex assay for 24 eye and hair colour
predictive SNPs, 19 of which also contribute to skin colour prediction. The HIrisPlex-S
system further comprises three statistical prediction models, the previously developed
IrisPlex model for eye colour prediction based on 6 SNPs, the previous HIrisPlex model
for hair colour prediction based on 22 SNPs, and the recently introduced HIrisPlex-S
model for skin colour prediction based on 36 SNPs. In the forensic developmental validation
testing, the novel 17-plex assay performed in full agreement with the Scientific Working
Group on DNA Analysis Methods (SWGDAM) guidelines, as previously shown for the 24-plex
assay. Sensitivity testing of the 17-plex assay revealed complete SNP profiles from
as little as 63 pg of input DNA, equalling the previously demonstrated sensitivity
threshold of the 24-plex HIrisPlex assay. Testing of simulated forensic casework samples
such as blood, semen, saliva stains, of inhibited DNA samples, of low quantity touch
(trace) DNA samples, and of artificially degraded DNA samples as well as concordance
testing, demonstrated the robustness, efficiency, and forensic suitability of the
new 17-plex assay, as previously shown for the 24-plex assay. Finally, we provide
an update to the publically available HIrisPlex website https://hirisplex.erasmusmc.nl/, now allowing the estimation of individual probabilities for 3 eye, 4 hair, and 5
skin colour categories from HIrisPlex-S input genotypes. The HIrisPlex-S DNA test
represents the first forensically validated tool for skin colour prediction, and reflects
the first forensically validated tool for simultaneous eye, hair and skin colour prediction
from DNA.
Keywords
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Article info
Publication history
Published online: April 12, 2018
Accepted:
April 6,
2018
Received in revised form:
March 5,
2018
Received:
October 16,
2017
Identification
Copyright
© 2018 Elsevier B.V. All rights reserved.
