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01.09.2015 | Original Article

Exploration of SNP variants affecting hair colour prediction in Europeans

verfasst von: Jens Söchtig, Chris Phillips, Olalla Maroñas, Antonio Gómez-Tato, Raquel Cruz, Jose Alvarez-Dios, María-Ángeles Casares de Cal, Yarimar Ruiz, Kristian Reich, Manuel Fondevila, Ángel Carracedo, María V. Lareu

Erschienen in: International Journal of Legal Medicine | Ausgabe 5/2015

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Abstract

DNA profiling is a key tool for forensic analysis; however, current methods identify a suspect either by direct comparison or from DNA database searches. In cases with unidentified suspects, prediction of visible physical traits e.g. pigmentation or hair distribution of the DNA donors can provide important probative information. This study aimed to explore single nucleotide polymorphism (SNP) variants for their effect on hair colour prediction. A discovery panel of 63 SNPs consisting of already established hair colour markers from the HIrisPlex hair colour phenotyping assay as well as additional markers for which associations to human pigmentation traits were previously identified was used to develop multiplex assays based on SNaPshot single-base extension technology. A genotyping study was performed on a range of European populations (n = 605). Hair colour phenotyping was accomplished by matching donor’s hair to a graded colour category system of reference shades and photography. Since multiple SNPs in combination contribute in varying degrees to hair colour predictability in Europeans, we aimed to compile a compact marker set that could provide a reliable hair colour inference from the fewest SNPs. The predictive approach developed uses a naïve Bayes classifier to provide hair colour assignment probabilities for the SNP profiles of the key SNPs and was embedded into the Snipper online SNP classifier (http://mathgene.usc.es/snipper/). Results indicate that red, blond, brown and black hair colours are predictable with informative probabilities in a high proportion of cases. Our study resulted in the identification of 12 most strongly associated SNPs to hair pigmentation variation in six genes.

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Titel: Exploration of SNP variants affecting hair colour prediction in Europeans
verfasst von: Jens Söchtig
Chris Phillips
Olalla Maroñas
Antonio Gómez-Tato
Raquel Cruz
Jose Alvarez-Dios
María-Ángeles Casares de Cal
Yarimar Ruiz
Kristian Reich
Manuel Fondevila
Ángel Carracedo
María V. Lareu
Publikationsdatum: 01.09.2015
Verlag: Springer Berlin Heidelberg
Erschienen in: International Journal of Legal Medicine / Ausgabe 5/2015
Print ISSN: 0937-9827
Elektronische ISSN: 1437-1596
DOI: https://doi.org/10.1007/s00414-015-1226-y

Die Highlights vom Kongress des American College of Cardiology 2024

Springer Medizin

Exploration of SNP variants affecting hair colour prediction in Europeans

Abstract

Neu im Fachgebiet Rechtsmedizin

Molekularpathologische Untersuchungen im Wandel der Zeit

Vergleichende Pathologie in der onkologischen Forschung

Gastrointestinale Stromatumoren

Personalisierte Medizin in der Onkologie

Die Highlights vom Kongress des American College of Cardiology 2024

Springer Medizin

Abstract

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