Mitochondrial DNA analysis; new guidelines of the ISFG for legal medicine

Mitochondrial DNA analysis; new guidelines of the ISFG for legal medicine

The new guidelines for the analysis of mitochondrial DNA (mtDNA) were published in fall 2014. The executive board of the International Society of Forensic Genetics (ISFG) invited internationally leading experts to update the guidelines for research and applied science. Walther Parson was assigned to lead the commission due to his comprehensive research on mitochondrial DNA, especially for the development and maintenance of EMPOP, the internationally recognized mtDNA database for statistical evaluation of mtDNA data.

MtDNA is located in the mitochondria of the cell. Its analysis is the most sensitive forensic genetic method known today. It is applied for the analysis of particularly challenging samples. These include minute traces from the crime scene (e.g. hair shaft samples) and specimens that are old or compromised due to ambient factors (e.g. bone samples that were damaged by burning, humidity, UV-light, or chemicals).

The analysis of mtDNA has been optimized at the Institute of Legal Medicine, Medical University of Innsbruck, to increase the chances to successfully analyze challenging samples. The mtDNA methodology is generally complex and prone to contamination and error due to the increased sensitivity. The institute has taken that into consideration: EMPOP is not only a database resource for the statistical evaluation of mtDNA data but also contains a powerful software suite for a posteriori quality control of mtDNA results.

The leading forensic genetic journals require quality control of mtDNA data by EMPOP prior to submission of a manuscript for review. This quality check is meanwhile also applied to mtDNA data that were established in the course of crime case work and for human identification (victims of natural disasters, accidents, attacks and war). International police and academic laboratories are contacting EMPOP to support quality control and interpretation of their mtDNA results.

ISFG: Recommendations of the DNA Commission