Single multiplex system of twelve SNPs: Validation and implementation for association of SNPs with human eye and hair color

Abstract

Predictions of human traits from biological stains with genetic methods have recently gained tremendous interest in criminal investigations. Various studies have revealed that single nucleotide polymorphisms (SNPs) within the HERC2, OCA2, MC1R, SLC24A5, SLC45A2 and TYR genes have been strongly associated with pigmentation trait variations in Caucasian populations. The prediction probability estimation for eye and hair color in the investigation conducted on the Slovenian population is associated mostly with two HERC2 SNPs: rs1129038 and rs12913832, with a probability value of 0.96, as has also been indicated in previous investigations. Other SNPs have a small additional affect on the prediction of eye color (OCA2 - rs1667394, rs7170989, TYR - rs1393350, and SLC45A2 - rs16891982) or hair color (OCA2 - rs1667394, rs7495174, rs7170989, MC1R - rs1805005, and TYR - rs139335). The variation in the rest of the SNPs (MC1R - rs1805008, OCA2 - rs1800407, SLC45A2 - rs26722, and SLC24A5 - rs1426654), are not as meaningful in terms of the prediction of values for eye and hair color. The SIplex assay is designed to be very sensitive, in order to indicate all twelve SNPs genotypes with only 62.5. pg of DNA. Using twelve SNPs, eight of which being more or less usable for eye and hair color prediction based on the human genotype, we managed to develop a sensitive and reliable multiplex genotyping assay. © 2011 Elsevier Ireland Ltd.