Mitochondrial genome Interrogation for forensic casework and research studies

Rhonda K. Roby, Marc Sprouse, Nicole Phillips, Alessandra Alicea-Centeno, Shantanu Shewale, Sabrina Shore, Natasha Paul

Research output: Contribution to journalArticlepeer-review


This unit describes methods used in the analysis of mitochondrial DNA (mtDNA) for forensic and research applications. UNIT 14.7 describes procedures specifically for forensic casework where the DNA from evidentiary material is often degraded or inhibited. In this unit, protocols are described for quantification of mtDNA before amplification; amplification of the entire control region from high-quality samples as well as procedures for interrogating the whole mitochondrial genome (mtGenome); quantification of mtDNA post-amplification; and, post-PCR cleanup and sequencing. The protocols for amplification were developed for high-throughput databasing applications for forensic DNA testing such as reference samples and population studies. However, these same protocols can be applied to biomedical research such as age-related disease and health disparities research.

Original languageEnglish
Article number14.9
JournalCurrent Protocols in Human Genetics
Issue numberSUPPL.81
StatePublished - 2014


  • Amplificationm sequencing
  • Forensic
  • PCR
  • Quantification
  • mtDNA
  • mtgenome


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