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Collaborative EDNAP exercise on the IrisPlex system for DNA based prediction of human eye colour

Chaitanya, Lakshmi (författare)
Erasmus MC University Medical Centre Rotterdam, The Netherlands
Walsh, Susan (författare)
Erasmus MC University Medical Centre Rotterdam, The Netherlands
Dyrberg Andersen, Jeppe (författare)
University of Copenhagen, Denmark
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Ansell, Ricky (författare)
Swedish National Laboratory of Forensic Science (SKL), Linköping, Sweden
Ballantyne, Kaye (författare)
Forensic Services Department, Victoria Police, Macleod, Victoria, Australia
Ballard, David (författare)
School of Biomedical Sciences, King's College London, UK
Banemann, Regine (författare)
Kriminaltechnik, Bundeskriminalamt, Wiesbaden, Germany
Maria Bauer, Christiane (författare)
Innsbruck Medical University, Austria
Margarida Bento, Ana (författare)
Instituto Nacional de Medicina Legal, Coimbra, Portugal
Brisighelli, Francesca (författare)
Università Cattolica del Sacro Cuore, Rome, Italy
Capal, Tomas (författare)
Institute of Criminalistics, Prague, Czech Republic
Clarisse, Lindy (författare)
Netherlands Forensic Institute, The Hague, The Netherlands
Gross, Theresa E. (författare)
University of Cologne, Germany
Haas, Cordula (författare)
University of Zurich, Switzerland
Hoff-Olsen, Per (författare)
Norwegian Institute of Public Health, Oslo, Norway
Hollard, Clémence (författare)
Université de Strasbourg, Institut de Médecine Légale, France
Keyser, Christine (författare)
Université de Strasbourg, Institut de Médecine Légale, France
Kiesler, Kevin M. (författare)
National Institute of Standards and Technology, Gaithersburg, MD, USA
Kohler, Priscila (författare)
Norwegian Institute of Public Health, Oslo, Norway
Kupiec, Tomasz (författare)
Institute of Forensic Research, Kraków, Poland
Linacre, Adrian (författare)
Flinders University, Adelaide, South Australia, Australia
Minawi, Anglika (författare)
Kriminaltechnik, Bundeskriminalamt, Wiesbaden, Germany
Morling, Niels (författare)
University of Copenhagen, Denmark
Nilsson, Helena (författare)
National Board of Forensic Medicine, Linköping, Sweden
Norén, Lina (författare)
Swedish National Laboratory of Forensic Science (SKL), Linköping, Sweden
Ottens, Renée (författare)
Flinders University, Adelaide, South Australia, Australia
Palo, Jukka U. (författare)
University of Helsinki, Finland
Parson, Walther (författare)
Innsbruck Medical University, Austria
Pascali, Vincenzo L. (författare)
Università Cattolica del Sacro Cuore, Rome, Italy
Philips, Chris (författare)
University of Santiago de Compostela, Spain
João Porto, Maria (författare)
Instituto Nacional de Medicina Legal, Coimbra, Portugal
Sajantila, Antti (författare)
University of Helsinki, Finland
Schneider, Peter M. (författare)
University of Cologne, Germany
Sijen, Titia (författare)
Netherlands Forensic Institute, The Hague, The Netherlands
Söchtig, Jens (författare)
University of Santiago de Compostela, Spain
Syndercombe-Court, Denise (författare)
School of Biomedical Sciences, King's College London, UK
Tillmar, Andreas (författare)
National Board of Forensic Medicine, Linköping, Sweden
Turanska, Martina (författare)
Institute of Forensic Science, Slovenská Lupca, Slovakia
Vallone, Peter M. (författare)
National Institute of Standards and Technology, Gaithersburg, MD, USA
Zatkalíková, Lívia (författare)
Institute of Forensic Science, Slovenská Lupca, Slovakia
Zidkova, Anastassiya (författare)
Charles University in Prague and General University Hospital in Prague, Czech Republic
Branicki, Wojciech (författare)
Institute of Forensic Research, Kraków, Poland
Kayser, Manfred (författare)
Erasmus MC University Medical Centre Rotterdam, The Netherlands
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 (creator_code:org_t)
Elsevier, 2014
2014
Engelska.
Ingår i: Forensic Science International. - : Elsevier. - 1872-4973 .- 1878-0326. ; 11, s. 241-251
Relaterad länk:
https://curis.ku.dk/...
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https://urn.kb.se/re...
https://doi.org/10.1...
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  • Tidskriftsartikel (refereegranskat)
Abstract Ämnesord
Stäng  
  • The IrisPlex system is a DNA-based test system for the prediction of human eye colour from biological samples and consists of a single forensically validated multiplex genotyping assay together with a statistical prediction model that is based on genotypes and phenotypes from thousands of individuals. IrisPlex predicts blue and brown human eye colour with, on average, >94% precision accuracy using six of the currently most eye colour informative single nucleotide polymorphisms (HERC2 rs12913832, OCA2 rs1800407, SLC24A4 rs12896399, SLC45A2 (MATP) rs16891982, TYR rs1393350, and IRF4 rs12203592) according to a previous study, while the accuracy in predicting non-blue and non-brown eye colours is considerably lower. In an effort to vigorously assess the IrisPlex system at the international level, testing was performed by 21 laboratories in the context of a collaborative exercise divided into three tasks and organised by the European DNA Profiling (EDNAP) Group of the International Society of Forensic Genetics (ISFG). Task 1 involved the assessment of 10 blood and saliva samples provided on FTA cards by the organising laboratory together with eye colour phenotypes; 99.4% of the genotypes were correctly reported and 99% of the eye colour phenotypes were correctly predicted. Task 2 involved the assessment of 5 DNA samples extracted by the host laboratory from simulated casework samples, artificially degraded, and provided to the participants in varying DNA concentrations. For this task, 98.7% of the genotypes were correctly determined and 96.2% of eye colour phenotypes were correctly inferred. For Tasks 1 and 2 together, 99.2% (1875) of the 1890 genotypes were correctly generated and of the 15 (0.8%) incorrect genotype calls, only 2 (0.1%) resulted in incorrect eye colour phenotypes. The voluntary Task 3 involved participants choosing their own test subjects for IrisPlex genotyping and eye colour phenotype inference, while eye photographs were provided to the organising laboratory and judged; 96% of the eye colour phenotypes were inferred correctly across 100 samples and 19 laboratories. The high success rates in genotyping and eye colour phenotyping clearly demonstrate the reproducibility and the robustness of the IrisPlex assay as well as the accuracy of the IrisPlex model to predict blue and brown eye colour from DNA. Additionally, this study demonstrates the ease with which the IrisPlex system is implementable and applicable across forensic laboratories around the world with varying pre-existing experiences.

Nyckelord

EDNAP
ISFG
IrisPlex
Eye colour prediction
Forensic DNA phenotyping
FDP

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