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International Journal of Legal Medicine

, Volume 126, Issue 1, pp 55–62 | Cite as

Potential forensic application of DNA methylation profiling to body fluid identification

  • Hwan Young Lee
  • Myung Jin Park
  • Ajin Choi
  • Ja Hyun An
  • Woo Ick Yang
  • Kyoung-Jin Shin
Original Article

Abstract

DNA analysis of various body fluid stains at crime scenes facilitates the identification of individuals but does not currently determine the type and origin of the biological material. Recent advances in whole genome epigenetic analysis indicate that chromosome pieces called tDMRs (tissue-specific differentially methylated regions) show different DNA methylation profiles according to the type of cell or tissue. We examined the potential of tissue-specific differential DNA methylation for body fluid identification. Five tDMRs for the genes DACT1, USP49, HOXA4, PFN3, and PRMT2 were selected, and DNA methylation profiles for these tDMRs were produced by bisulfite sequencing using pooled DNA from blood, saliva, semen, menstrual blood, and vaginal fluid. The tDMRs for DACT1 and USP49 showed semen-specific hypomethylation, and the tDMRs for HOXA4, PFN3, and PRMT2 displayed varying degrees of methylation according to the type of body fluid. Preliminary tests using methylation-specific PCR for the DACT1 and USP49 tDMRs showed that these two markers could be used successfully to identify semen samples including sperm cells. Body fluid-specific differential DNA methylation may be a promising indicator for body fluid identification. Because DNA methylation profiling uses the same biological source of DNA for individual identification profiling, the determination of more body fluid-specific tDMRs and the development of convenient tDMR analysis methods will facilitate the broad implementation of body fluid identification in forensic casework.

Keywords

Body fluid identification DNA methylation Tissue-specific differentially methylated region 

Notes

Acknowledgments

This research was supported by the Basic Science Research Program through the National Research Foundation of Korea (NRF) funded by the Ministry of Education, Science and Technology (2009–0073496 and 2010–0005208).

Conflict of interest

The authors declare that they have no conflict of interest.

Supplementary material

414_2011_569_MOESM1_ESM.pdf (151 kb)
ESM 1 (PDF 150 kb)
414_2011_569_MOESM2_ESM.pdf (483 kb)
ESM. 2 (PDF 482 kb)

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Copyright information

© Springer-Verlag 2011

Authors and Affiliations

  • Hwan Young Lee
    • 1
    • 2
  • Myung Jin Park
    • 1
  • Ajin Choi
    • 1
  • Ja Hyun An
    • 1
  • Woo Ick Yang
    • 1
  • Kyoung-Jin Shin
    • 1
    • 2
  1. 1.Department of Forensic Medicine and Brain Korea 21 Project for Medical ScienceYonsei University College of MedicineSeoulSouth Korea
  2. 2.Human Identification Research CenterYonsei UniversitySeoulSouth Korea

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