Validation of mitochondrial DNA sequencing for forensic casework analysis

Mark R. Wilson, Joseph A. DiZinno, Deborah Polanskey, Jeri Replogle, Bruce Budowle

Research output: Contribution to journalArticlepeer-review

297 Scopus citations


Two sets of studies were performed to evaluate the forensic utility of sequencing human mitochondrial DNA (mtDNA) derived from various tissues and amplified by the polymerase chain reaction (PCR). Sequencing was performed on a Perkin-Elmer/Applied Biosystems Division (PE/ABD) automated DNA sequencer (model 373A). The first set of experiments included typical validation studies that had previously been conducted on forensic DNA markers, such as: chemical contaminant effects on DNA from blood and semen and the effect of typing DNA extracted from body fluid samples deposited on various substrates. A second set of experiments was performed strictly on human hair shafts. These studies included typing mtDNA from hairs that were: (1) from different body areas, (2) chemically treated, (3) from deceased individuals, and (4) deliberately contaminated with various body fluids. The data confirm that PCR-based mtDNA typing by direct automated sequencing is a valid and reliable means of forensic identification.

Original languageEnglish
Pages (from-to)68-74
Number of pages7
JournalInternational journal of legal medicine
Issue number2
StatePublished - Mar 1995


  • Forensics
  • Hair
  • Human polymorphisms
  • Mitochondrial DNA
  • Sequencing


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