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Updated: Aug 20, 2026

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
Published on: February 10, 2023
Comparison between the Polish population and European populations on the basis of mitochondrial morphs and
Janusz Piechota1, Katarzyna Tońska, Magda Nowak
1Department of Genetics, University of Warsaw, Warszawa, Poland.
Abstract:
Polymorphisms in mitochondrial DNA (mtDNA) were analyzed in 152 samples from the Polish population using restriction enzymes AvaI, BamHI, HaeII, HpaI and PstI. Additionally, each sample was classified into the appropriate haplogroup. When required, appropriate fragments were sequenced to establish the exact polymorphic sites. We found one new morph for PstI and six new morphs for AvaII. Some detected morphs have previously been described as population specific morphs in different regions of the world. All polymorphisms were classified into 31 different haplotypes. 21 of them were detected in single individuals. The Polish population was compared with other populations from different regions. Moreover, we have obtained evidence for mutation hot spots in the mtDNA coding region. Our results indicate that AvaII morph and haplogroup composition of the Polish population is similar to other European populations and has a distribution typical for this part of the world. However, statistically significant differences in haplogroup composition were found between the Polish population and Italian and Finnish populations.
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