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Enhancing forensic casework interpretation through DNA methylation-based analysis: A case study of pooled blood

Jeong Min Lee1, Sang Un Park2, Bo Min Kim2

  • 1Institute of Forensic and Anthropological Science, Seoul National University College of Medicine, Seoul, Korea.

Forensic Science International. Genetics
|January 15, 2026
PubMed
Summary

Forensic DNA methylation profiling identified a Korean male donor from blood and an unknown sample, suggesting hematemesis. This case highlights integrated genetic and epigenetic methods for forensic investigations.

Keywords:
Age predictionDNA methylationForensic DNA phenotypingShort tandem repeatTissue identification

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Area of Science:

  • Forensic Science
  • Genetics
  • Epigenetics

Background:

  • Investigating unidentified biological material is crucial in forensic casework.
  • Integrated genetic and epigenetic profiling aids in reconstructing incident scenarios and assessing criminal involvement.
  • DNA methylation analysis can determine cellular composition, donor age, and smoking status.

Purpose of the Study:

  • To profile an unknown donor from a complex forensic case involving pooled blood.
  • To reconstruct incident circumstances using integrated genetic and epigenetic analyses.
  • To demonstrate the utility of advanced profiling techniques in challenging forensic investigations.

Main Methods:

  • Short tandem repeat (STR) typing and Y-haplotyping for genetic profiling.
  • SNaPshot analysis for body fluid identification.
  • Array-based DNA methylation profiling for cell/tissue deconvolution, age, and smoking status estimation.

Main Results:

  • Two scene samples originated from the same Korean male donor (Y-haplogroup O3a2).
  • The presumed blood sample was a blood-saliva mixture with whole blood and upper gastrointestinal tissue components.
  • Analysis supported hematemesis, indicating a medical scenario rather than criminal activity; donor age estimated at 50-60 years, current smoker.

Conclusions:

  • Integrated genetic and epigenetic profiling, especially tissue-of-origin analysis, generates crucial investigative leads.
  • These methodologies facilitate the inference of incident circumstances, even with suboptimal sample quality.
  • The study showcases the power of advanced forensic techniques in complex casework and donor identification.