Annals of Human Genetics

Mitochondrial DNA variability in Poles and Russians

B. A.  MALYARCHUK  a1 c1, T.  GRZYBOWSKI  a2, M. V.  DERENKO  a1 c2, J.  CZARNY  a2, M.  WOZNIAK  a2 and D.  MISCICKA-SLIWKA  a2
a1 Institute of Biological Problems of the North, Russian Academy of Sciences, Portovaya str. 18, 685000 Magadan, Russia
a2 The Ludwik Rydygier University School of Medical Sciences, Forensic Medicine Institute, ul. Sklodowskiej-Curie 9, 85-094 Bydgoszcz, Poland


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.

(Received February 11 2002)
(Accepted April 11 2002)

c1 Correspondence: Dr Boris A. Malyarchuk, Genetics Laboratory, Institute of Biological Problems of the North, Portovaya str., 18, 685000 Magadan, Russia. Tel/Fax: 7 41322 34463.
c2 E-mail: