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Source level interpretation of mixed biological stains using coding region SNPs.

Guro Dørum1, Øyvind Bleka2, Peter Gill3

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

Forensic Science International. Genetics
|April 5, 2022
PubMed
Summary

Coding region single nucleotide polymorphisms (cSNPs) link donors to body fluids in mixed DNA stains. This study evaluates cSNP profiles using EuroForMix for forensic DNA analysis, demonstrating their effectiveness in assigning donors to biological materials.

Keywords:
Body fluid identificationBody fluid mixturesCoding region SNP (cSNP)Forensic ScienceLikelihood ratioSource level propositionsmRNA

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Area of Science:

  • Forensic Science
  • Genetics
  • Molecular Biology

Background:

  • Linking DNA profiles to specific body fluids and donors in mixed biological samples is a significant forensic challenge.
  • Current methods like presumptive tests and RNA analysis have limitations in directly associating DNA profiles with donors and cell types.

Purpose of the Study:

  • To introduce and evaluate coding region single nucleotide polymorphisms (cSNPs) as novel, individual-specific, and cell-type-specific forensic markers.
  • To explore the use of open-source software EuroForMix for evaluating cSNP profiles in forensic casework.
  • To assess the discrimination power of cSNPs for various body fluids through simulations.

Main Methods:

  • Utilized coding region SNPs (cSNPs) for their dual individual and cell-type specificity.
  • Employed simulations to investigate the discrimination power of cSNPs across different body fluids.
  • Applied the EuroForMix software to compute likelihood ratios for source-level forensic propositions.
  • Presented case examples illustrating the application of cSNPs in assigning donors to biological materials.

Main Results:

  • Demonstrated that cSNPs can directly link a DNA donor to a specific body fluid within mixed biological stains.
  • Simulations confirmed the high discrimination power of cSNPs for differentiating various body fluids.
  • Case examples successfully utilized cSNP profiles to assign donors to questioned biological materials.

Conclusions:

  • cSNPs represent a powerful new tool for forensic DNA analysis, enabling direct association of donors with body fluids.
  • EuroForMix is a suitable platform for evaluating cSNP profiles in forensic contexts.
  • The findings support the use of cSNPs for reporting forensic evidence related to donor-body fluid associations.