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Assessment of IrisPlex-based multiplex for eye and skin color prediction with application to a Portuguese population

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Abstract

DNA phenotyping research is one of the most emergent areas of forensic genetics. Predictions of externally visible characteristics are possible through analysis of single nucleotide polymorphisms. These tools can provide police with “intelligence” in cases where there are no obvious suspects and unknown biological samples found at the crime scene do not result in any criminal DNA database hits. IrisPlex, an eye color prediction assay, revealed high prediction rates for blue and brown eye color in European populations. However, this is less predictive in some non-European populations, probably due to admixing. When compared to other European countries, Portugal has a relatively admixed population, resulting from a genetic influx derived from its proximity to and historical relations with numerous African territories. The aim of this work was to evaluate the utility of IrisPlex in the Portuguese population. Furthermore, the possibility of supplementing this multiplex with additional markers to also achieve skin color prediction within this population was evaluated. For that, IrisPlex was augmented with additional SNP loci. Eye and skin color prediction was estimated using the multinomial logistic regression and binomial logistic regression models, respectively. The results demonstrated eye color prediction accuracies of the IrisPlex system of 90 and 60 % for brown and blue eye color, respectively, and 77 % for intermediate eye color, after allele frequency adjustment. With regard to skin color, it was possible to achieve a prediction accuracy of 93 %. In the future, phenotypic determination multiplexes must include additional loci to permit skin color prediction as presented in this study as this can be an advantageous tool for forensic investigation.

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Acknowledgments

The authors would like to express their sincere gratitude to all the volunteers who contributed to this work by providing samples. The authors would also like to thank two anonymous reviewers who gave valuable comments and advice on how to improve the content of this article.

Conflict of interest

The authors declare that they have no conflict of interest.

Ethical standards

All experiments were approved by the Governing board of the National Institute of Legal Medicine and Forensic Sciences, Portugal.

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Authors and Affiliations

  1. INMLCF - National Institute of Legal Medicine and Forensic Sciences, Largo da Sé Nova, 3000-213, Coimbra, Portugal

    Paulo Dario, Isabel Lucas, Teresa Ribeiro, Maria João Porto, Jorge Costa Santos & Francisco Corte Real

  2. Faculty of Sciences, University of Lisbon, Campo Grande, 1749-016, Lisboa, Portugal

    Paulo Dario, Helena Mouriño, Ana Rita Oliveira & Deodália Dias

  3. CENCIFOR - Forensic Sciences Centre, Largo da Sé Nova, 3000-213, Coimbra, Portugal

    Paulo Dario, Teresa Ribeiro, Maria João Porto, Jorge Costa Santos & Francisco Corte Real

  4. CESAM - Centre for Environmental and Marine Studies, Edifício C2, Campo Grande, 1749-016, Lisboa, Portugal

    Paulo Dario, Ana Rita Oliveira & Deodália Dias

  5. Faculty of Medicine, University of Lisbon, Av. Professor Egas Moniz, 1649-028, Lisboa, Portugal

    Jorge Costa Santos

  6. Faculty of Medicine, University of Coimbra, Rua Larga, 3004-504, Coimbra, Portugal

    Francisco Corte Real

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  1. Paulo Dario
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Correspondence to Paulo Dario.

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Dario, P., Mouriño, H., Oliveira, A.R. et al. Assessment of IrisPlex-based multiplex for eye and skin color prediction with application to a Portuguese population. Int J Legal Med 129, 1191–1200 (2015). https://doi.org/10.1007/s00414-015-1248-5

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  • DOI: https://doi.org/10.1007/s00414-015-1248-5

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