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Minerva Medicolegale 2007 December;127(4):283-92

language: English

Synthesis on forensic mitochondrial DNA sequence analysis

Thèves C., Lacan M.

Laboratory of Anthropobiology CNRS FRE2960, Toulouse, France


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In recent decades, mitochondrial DNA has been widely analyzed in cases of identification in forensic medicine, due to its own specific characters, its maternal inherited transmission and its high mutation rate. In this review, the analysis of mitochondrial DNA by automated sequencing and its application in the forensic and genetic fields are discussed. Guidelines on working practices and nomenclature have been reviewed and precautions against erroneous data are pointed out. Difficulties in identifying and interpreting heteroplasmy are also examined. Widespread, intensive sequencing of mitochondrial DNA leads to new discoveries on mitochondrial DNA, its genetics and variations, but demands being very careful with data and quality controls. Finally, new approaches in phylogenetic and effective strategies appear to improve results and interpretation of mitochondrial DNA for each genetic research field.

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