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Updated: Jun 23, 2026

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
Published on: February 10, 2023
[The application of minisequencing reactions for haplogroup assignment of mitochondrial DNA]
Patrycja Daca1, Marta Mielnik, Urszula Rogalla
1Katedry Medycyny Sadowej UMK w Toruniu, Collegium Medicum im. Ludwika Rydygiera w Bydgoszczy.
Abstract:
In the last few years, one could observe an increased interest in mitochondrial DNA (mtDNA) single nucleotide polymorphisms (SNPs) as a result of their numerous applications in population genetics and forensic science. Continuous progress in molecular technologies together with an increasing body of phylogenetic knowledge, based mainly on complete mitochondrial genome sequencing, allows both for selection and accurate typing of many SNPs in mitochondrial DNA. Among the SNP typing techniques, due to its high sensitivity and promptness of determinations, minisequencing appears to be one of the fastest and most frequently applied methods in forensic laboratories. This review presents currently available minisequencing systems used for haplogroup assignment of mtDNA in European, East Asian and Native American populations.
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