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Assigning forensic body fluids to donors in mixed body fluids by targeted RNA/DNA deep sequencing of coding region SNPs

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Abstract

Biological traces found at crime scenes are analysed not only to genetically identify the donor(s) but also to determine the composition of the stain. For some cases, it is essential to associate a body fluid with a donor. Especially in mixed body fluid stains, but also in body fluid stains that appear to be single-source, this may be of importance. Linking a DNA profile (sub-source level) with evidence from a presumptive test or mRNA analysis (source level) is not straightforward. Our results support that associating donors and body fluids by means of comparing mixture ratios in RNA and DNA is not recommended. We introduce a set of 35 coding region SNPs (cSNPs) in body fluid-specific mRNA transcripts that represent a direct link between the body fluids and their donors. The discrimination power of the cSNPs was estimated based on allele frequencies calculated from a population sample (n = 188), and we investigated the practical application of the cSNPs in different scenarios. The results demonstrate that more cSNPs are needed to improve the discrimination power. However, the findings are promising as we were able to associate donors with body fluids in mixtures of different body fluids as well as in stains where both donors have contributed the same body fluid, e.g. a blood-blood mixture. In addition, the cSNP assay can be used for body fluid identification. The results of this proof-of-concept study support the use of cSNPs to assign body fluids to the respective donors.

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Acknowledgements

We thank Samuel Koller for support with the MiSeq instrument, Giancarlo Russo and Andres Nussbaum for help with data analysis and all volunteers who provided samples for this study.

Funding

This study was funded by the European Union Seventh Framework Programme (FP7/2007-2013) under grant agreement no. 285487 (EUROFORGEN-NoE) and the National Institute of Justice (NIJ), Office of Justice Programs, U.S. Department of Justice (Award No. 2014-DN-BX-K019). The funding agencies had no role in study design, data analysis and interpretation and in manuscript preparation and submission. The opinions, findings and conclusions or recommendations are those of the authors and do not necessarily reflect those of the funding agencies.

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Author notes

  1. S. Ingold and G. Dørum contributed equally to this work.

Authors and Affiliations

  1. Zurich Institute of Forensic Medicine, University of Zurich, Zurich, Switzerland

    S. Ingold, G. Dørum & C. Haas

  2. National Center for Forensic Science, University of Central Florida, Orlando, USA

    E. Hanson & J. Ballantyne

  3. Department of Chemistry, University of Central Florida, Orlando, USA

    J. Ballantyne

Authors
  1. S. Ingold
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  2. G. Dørum
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  3. E. Hanson
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  4. J. Ballantyne
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  5. C. Haas
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Corresponding author

Correspondence to C. Haas.

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Conflict of interest

The authors declare that they have no conflict of interest.

Ethical approval

The sampling was approved by the local ethics commission (Kantonale Ethikkommission Zürich, KEK), declaration of no objection no. 24-2015.

Informed consent

Body fluids and buccal swabs were collected from volunteers with their oral informed consent.

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Ingold, S., Dørum, G., Hanson, E. et al. Assigning forensic body fluids to donors in mixed body fluids by targeted RNA/DNA deep sequencing of coding region SNPs. Int J Legal Med 134, 473–485 (2020). https://doi.org/10.1007/s00414-020-02252-w

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  • DOI: https://doi.org/10.1007/s00414-020-02252-w

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