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

Research output: Contribution to journalArticlepeer-review

86 Scopus citations

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 tissuespecific 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 methylationspecific 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.

Original languageEnglish
Pages (from-to)55-62
Number of pages8
JournalInternational Journal of Legal Medicine
Volume126
Issue number1
DOIs
StatePublished - Jan 2012

Keywords

  • Body fluid identification
  • DNA methylation
  • Tissue-specific differentially methylated region

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