Interpretation Guidelines of mtDNA Control Region Sequence Electropherograms in Forensic Genetics

  • Manuel Crespillo MarquezEmail author
Part of the Methods in Molecular Biology book series (MIMB, volume 830)


Forensic mitochondrial DNA (mtDNA) analysis is a complementary technique to forensic nuclear DNA (nDNA) and trace evidence analysis. Its use has been accepted by the vast majority of courts of law around the world. However for the forensic community it is crucial to employ standardized methods and procedures to guaranty the quality of the results obtained in court. In this chapter, we describe the most important aspects regarding the interpretation and assessment of mtDNA analysis, and offer a simple guide which places particular emphasis on those aspects that can impact the final interpretation of the results. These include the criteria for authenticating a sequence excluding the contaminant origin, defining the quality of a sequence, editing procedure, alignment criteria for searching the databases, and the statistical evaluation of matches. It is not easy to establish a single guide to interpretation for mtDNA analysis; however, it is important to understand all variables that may in some way affect the final conclusion in the context of a forensic case. As a general rule, laboratories should be cautious before issuing the final conclusion of an mtDNA analysis, and consider any significant limitations regarding current understanding of specific aspects of the mtDNA molecule.

Key words

Mitochondrial DNA Interpretation Forensic Database Heteroplasmy 



The author is very grateful to Miguel Paredes for their valued and enriching comments on this chapter.


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Copyright information

© Springer Science+Business Media, LLC 2012

Authors and Affiliations

  1. 1.Servicio de BiologíaInstituto Nacional de Toxicología y Ciencias ForensesBarcelonaSpain

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