Advertisement

Evaluation of PyroMark Q48 Autoprep with HIrisPlex-S in an Italian population sample

Published:October 25, 2022DOI:https://doi.org/10.1016/j.fsigss.2022.10.072

      Abstract

      If there is no match in the National DNA database, forensic phenotyping represents an opportunity to give a new impulse to criminal investigation. However, in most forensic laboratories the phenotypic analysis flow is limited to few samples per year and the costs of NGS methodologies, nowadays, could be a discriminating factor. In addition, in some criminal cases time is crucial and the laboratory is required to provide information as soon as possible. In this context, we decided to evaluate the effectiveness and efficiency of PyroMark Q48 Autoprep to obtain phenotypic data using HIrisPlex-S panel on 54 samples from people of Italian origin. The evaluation to predict the eye, hair and skin colors was made possible by the statistical prediction model available online (https://hirisplex.erasmusmc.nl). Finally, the analysis requires 4 h to complete and the cost of reagents for a single sample analyzed is similar to an STR analysis with commonly used commercial forensic kits (based on 2019 quotations). Although the number of markers per run is limited by the experimental design of the PyroMark Q48 Autoprep compared to NGS methodologies, this approach represents a practical alternative to perform faster and cheaper phenotyping of a single sample.

      Keywords

      To read this article in full you will need to make a payment

      Purchase one-time access:

      Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access
      One-time access price info
      • For academic or personal research use, select 'Academic and Personal'
      • For corporate R&D use, select 'Corporate R&D Professionals'

      Subscribe:

      Subscribe to Forensic Science International: Genetics Supplement Series
      Already a print subscriber? Claim online access
      Already an online subscriber? Sign in
      Institutional Access: Sign in to ScienceDirect

      References

      1. N. Staiti, F. Gentile, E. Pilli, et al., The Yara Gambirasio case: collection strategy and mass screening used to find the perpetrator DNA in a difficult scenario, Forensic Sci. Int.: Genet. Suppl. Ser., vol. 7, (no. 1), pp. 444–6.

        • Chaitanya L.
        • Breslin K.
        • Zuñiga S.
        • et al.
        The HIrisPlex-S system for eye, hair and skin colour prediction from DNA: Introduction and forensic developmental validation.
        Forensic Sci. Int. Genet. 2018; 25: 123-135
        • Walsh S.
        • Chaitanya L.
        • Breslin K.
        • et al.
        Global skin colour prediction from DNA.
        Hum. Genet. 2017; 136: 847-863
        • Walsh S.
        • Chaitanya L.
        • Clarisse L.
        • et al.
        Developmental validation of the HIrisPlex system: DNA-based eye and hair colour prediction for forensic and anthropological usage.
        Forensic Sci. Int.: Genet. 2014; 9: 150-161
        • Kukla-Bartoszek M.
        • Pośpiech E.
        • Spólnicka M.
        • et al.
        Investigating the impact of age-depended hair colour darkening during childhood on DNA-based hair colour prediction with the HIrisPlex system.
        Forensic Sci. Int. Genet. 2018; 36 (Epub 2018 Jun 6): 26-33https://doi.org/10.1016/j.fsigen.2018.06.007
      2. F. Gentile, E. Castoldi, P.Serventi, et al., Early evaluation of five age-correlated DNA methylation markers in an Italian population sample. Forensic Sci. Int.: Genet. Suppl. Ser., vol. 7(no. 1), pp. 424–6.