Related Experiment Video
Updated: May 11, 2026

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
Published on: February 10, 2023
[The application of mitochondrial genomics to forensic investigations based on human mitochondrial DNA testing]
Katarzyna Skonieczna1, Jarosław Bednarek, Urszula Rogalla
1Zakładu Genetyki Molekularnej i Sadowej Katedry Medycyny Sadowej, Collegium Medicum im. Ludwika Rydygiera w Bydgoszczy Uniwersytetu Mikołaja Kopernika w Toruniu.
Abstract:
In this study we present two forensic cases where mitochondrial DNA HVS I and HVS II haplotypes of evidentiary hairs match reference samples. Based on the information retrieved from mtDNA coding region of reference material, we selected single nucleotide polymorphisms (SNPs) located outside the HVS I and HVS II regions that could increase the informativeness of mtDNA analysis. The SNPs were typed via SNaPshot or dideoxy sequencing technology. In both cases the SNP results allowed for unambiguous exlusion of the evidence and for determining that reference samples originated from the same person.
Related Concept Videos
Animal Mitochondrial Genetics
Applications of Molecular Taxonomy
Modern Molecular Taxonomy
Comparing Mitochondrial, Chloroplast, and Prokaryotic Genomes
Export of Mitochondrial and Chloroplast Genes

