Cited by 141Forensic and Genetic ResearchGenetic diversity and population structureGenetic Associations and Epidemiology

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Mitochondrial DNA variability in Poles and Russians

MALYARCHUK, B. A., GRZYBOWSKI, T., DERENKO, M. V., CZARNY, J., WOŹNIAK, M., MIŚCICKA‐ŚLIWKA, D.·2002·Annals of Human Genetics

DOI 10.1046/j.1469-1809.2002.00116.x

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Abstract

Mitochondrial DNA (mtDNA) sequence variation was examined in Poles (from the Pomerania‐Kujawy region; n = 436) and Russians (from three different regions of the European part of Russia; n = 201), for which the two hypervariable segments (HVS I and HVS II) and haplogroup‐specific coding region sites were analyzed. The use of mtDNA coding region RFLP analysis made it possible to distinguish parallel mutations that occurred at particular sites in the HVS I and II regions during mtDNA evolution. In total, parallel mutations were identified at 73 nucleotide sites in HVS I (17.8%) and 31 sites in HVS II (7.73%). The classification of mitochondrial haplotypes revealed the presence of all major European haplogroups, which were characterized by similar patterns of distribution in Poles and Russians. An analysis of the distribution of the control region haplotypes did not reveal any specific combinations of unique mtDNA haplotypes and their subclusters that clearly distinguish both Poles and Russians from the neighbouring European populations. The only exception is a novel subcluster U4a within subhaplogroup U4, defined by a diagnostic mutation at nucleotide position 310 in HVS II. This subcluster was found in common predominantly between Poles and Russians (at a frequency of 2.3% and 2.0%, respectively) and may therefore have a central‐eastern European origin.

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Authors: MALYARCHUK, B. A., GRZYBOWSKI, T., DERENKO, M. V., CZARNY, J., WOŹNIAK, M., & MIŚCICKA‐ŚLIWKA, D.
Affiliations: Russian Academy of Sciences (RU)
ORCID: GRZYBOWSKI, T.
DERENKO, M. V.
CZARNY, J.
WOŹNIAK, M.
Venue: Annals of Human Genetics
Publisher: Wiley
Published: 2002-07
Volume: 66
Issue: 4
Pages: 261-283
ISSN: 0003-4800 (ISSN-L)
1469-1809
DOI: 10.1046/j.1469-1809.2002.00116.x
OpenAlex: W4238404866
Cited by: 141
References: 0
Citations by year: 2026: 1 · 2025: 1 · 2024: 2 · 2022: 5 · 2020: 2 · 2019: 3 · 2018: 4 · 2017: 6 · 2016: 3 · 2015: 5 · 2014: 10 · 2013: 5 · 2012: 7
FWCI: 5.83
Type: journal article
Language: en
Open access: closed
Licence: onlinelibrary.wiley.com/termsAndConditions#vor (vor, 220 d)
Locations: Annals of Human Genetics (publishedVersion)
PubMed (publishedVersion)
PubMed
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic diversity and population structure
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Keywords: mitochondrial DNA, parallel mutations, mitochondrial haplotypes, control region, poles, Russian, genetic differentiation, European Russia
MeSH terms: DNA, Mitochondrial, Genetics, Population, Haplotypes, Humans, Phylogeny, Polymorphism, Restriction Fragment Length, Russia, Genetic Variation, Sequence Analysis, DNA

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Mitochondrial DNA variability in Poles and Russians

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