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Updated: Jul 18, 2026

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
Published on: February 10, 2023
[Phylogeographic approach in the interpretation of mitochondrial DNA sequencing results in forensics]
Tomasz Grzybowski1, Boris A Malyarchuk, Jarosław Bednarek
1Zakładu Genetyki Molekularnej i Sadowej Katedry Medycyny Sqadowej, Collegium Medicum im. Ludwika Rydygiera w Bydgoszczy, Uniwersytetu Mikołaja Kopernika w Toruniu. tgrzyb@cm.umk.pl
Abstract:
In recent years, forensic mitochondrial DNA analysis has been undertaken from an evolutionary perspective. In particular, the phylogeographic approach based on a phylogenetic analysis of the spatial distribution of mitochondrial haplotypes and haplogroups appears to be a useful tool in the interpretation of identification cases. In this study, the phylogeographic approach has been employed in the analysis of three difficult forensic cases, where single nucleotide, homoplasmic differences were found between the reference and evidentiary haplotypes. mtDNA sequence variation has been examined by the control region (HVS I and HVS II) direct sequencing. Additionally, in order to clarify the subhaplogroup status of the selected haplotypes, DNA sequences of entire mitochondrial genomes obtained from two samples representing J1b subclade have been analyzed.
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