AI Summary & Key Takeaways
AI InsightConclusion: This study underscores the combined influence of substrate characteristics and DNA quality on forensic phenotype inference, emphasizing the importance of substrate considerations in forensic investigations.
📌 3 Key Takeaways
Abstract
Background: Forensic DNA Phenotyping (FDP) allows the prediction of externally visible characteristics, such as eye, hair, and skin color, from biological samples. However, the quality and quantity of DNA recovered can be strongly influenced by the substrate on which biological material is deposited. Aim: In this study, blood samples from five volunteers were deposited on cotton, denim, and polyester fabrics and stored at room temperature for seven months. DNA was extracted and analyzed using the HIrisPlex-S panel to predict eye, hair, and skin color. Methods: Analyses involving 41 SNP loci were performed using the HIrisPlex-S protocol and the SNaPshot single base extension method, while phenotype predictions were made using an online web tool (https://hirisplex.erasmusmc.nl/) based on a multinomial logistic regression (MLR) model. Results: Reference samples yielded high DNA concentrations and complete SNP profiles, resulting in accurate predictions for blue and brown eye colors, black and brown hair, and most skin tones. In fabric-derived samples, cotton and denim provided sufficient DNA for reliable phenotype prediction, while polyester consistently yielded low or undetectable DNA, preventing successful genotyping. Across all fabric types, intermediate eye colors and blond hair were frequently misclassified, highlighting inherent limitations of prediction models and the polygenic complexity of these traits. Allelic dropout was most pronounced in polyester samples and at specific loci, including MC1R and SLC24A5, which impacted hair and skin color predictions. Our findings demonstrate that fabric type significantly affects DNA preservation and forensic phenotype prediction accuracy. Cotton and denim are suitable substrates for recovering DNA for HIrisPlex-S analysis, whereas polyester poses substantial challenges. Conclusion: This study underscores the combined influence of substrate characteristics and DNA quality on forensic phenotype inference, emphasizing the importance of substrate considerations in forensic investigations.