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Forensic Sci Int Genet. 2014 Nov;13:134-42. doi: 10.1016/j.fsigen.2014.07.010. Epub 2014 Jul 29.

DNA Commission of the International Society for Forensic Genetics: revised and extended guidelines for mitochondrial DNA typing.

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Institute of Legal Medicine, Innsbruck Medical University, Innsbruck, Austria; Penn State Eberly College of Science, University Park, PA, USA. Electronic address:
DNA Diagnostic Laboratory (LDD), State University of Rio de Janeiro (UERJ), Brazil; IPATIMUP, Institute of Molecular Pathology and Immunology of the University of Porto, Portugal.
FBI Laboratory, Quantico, VA, USA.
Division of Blood Group Serology, Medical University of Vienna, Austria.
Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Department of Sciences, John Jay College for Criminal Justice, New York, NY, USA.
Unidade de Xenética, Departamento de AnatomíaPatolóxica e CienciasForenses, and Instituto de CienciasForenses, Grupo de MedicinaXenómica (GMX), Facultade de Medicina, Universidade de Santiago de Compostela, 15872 Galicia, Spain.
Institute of Legal Medicine, Medical Faculty, University of Cologne, Cologne, Germany.
International Commission on Missing Persons, Alipasina 45a, 71000 Sarajevo, Bosnia and Herzegovina.


The DNA Commission of the International Society of Forensic Genetics (ISFG) regularly publishes guidelines and recommendations concerning the application of DNA polymorphisms to the question of human identification. Previous recommendations published in 2000 addressed the analysis and interpretation of mitochondrial DNA (mtDNA) in forensic casework. While the foundations set forth in the earlier recommendations still apply, new approaches to the quality control, alignment and nomenclature of mitochondrial sequences, as well as the establishment of mtDNA reference population databases, have been developed. Here, we describe these developments and discuss their application to both mtDNA casework and mtDNA reference population databasing applications. While the generation of mtDNA for forensic casework has always been guided by specific standards, it is now well-established that data of the same quality are required for the mtDNA reference population data used to assess the statistical weight of the evidence. As a result, we introduce guidelines regarding sequence generation, as well as quality control measures based on the known worldwide mtDNA phylogeny, that can be applied to ensure the highest quality population data possible. For both casework and reference population databasing applications, the alignment and nomenclature of haplotypes is revised here and the phylogenetic alignment proffered as acceptable standard. In addition, the interpretation of heteroplasmy in the forensic context is updated, and the utility of alignment-free database searches for unbiased probability estimates is highlighted. Finally, we discuss statistical issues and define minimal standards for mtDNA database searches.


Alignment; Database searches; Haplogroups; Heteroplasmy; Phylogeny; Quasi-median networks

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