Mitochondrial DNA Variability in Poles and Russians

” Institute of Biological Problems of the North, Russian Academy of Sciences, Portovaya str. 18,
685000 Magadan, Russia
# The Ludwik Rydygier University School of Medical Sciences, Forensic Medicine Institute,

Mitochondrial DNA

Mitochondrial DNA (mtDNA) sequence variation was examined in Poles (from the Pomerania- Kujawy region; n?436) and Russians (from three di?erent regions of the European part of Russia; n?201), for which the two hypervariable segments (HVS I and HVS II) and haplogroup-specifc 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 identi?ed at 73 nucleotide sites in HVS I
(17±8%) and 31 sites in HVS II (7±73%). The classi?cation 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 speci?c 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, de?ned 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.

Haplogroup Poles (436) Russians (201)
H 197 (45±18) 85 (42±29)
HV* 4 (0±92) 4 (1±99)
pre-V 21 (4±82) 11 (5±47)
pre-HV 0 1 (0±50)
J 34(7±80) 16 (7±96)
T* 41 (9±40) 18 (8±96)
T1 9 (2±06) 4 (1±99)
K 15(3±44) 6 (2±99)
U1 0 2 (1±00)
U2 4 (0±92) 3 (1±49)
U3 2 (0±46) 2 (1±00)
U4 22 (5±05) 7 (3±48)
U5 38 (8±72) 21 (10±45)
U7 1 (0±23) 1 (0±50)
U8 2 (0±46) 0
U* 1 (0±23) 0
I 8(1±83) 5 (2±49)
W 16(3±67) 4 (1±99)
X 8(1±83) 7 (3±48)
N1b 1 (0±23) 0
N1c 1 (0±23) 0
R* 2 (0±46) 1 (0±50)
L3 1 (0±23) 0
M 8(1±83) 3 (1±49)

“±” stands for “.”

We have observed members of the haplogroups C, D, E, G and M* in Poles and Russians at a frequency of 1±8% and 1±5%, respectively.

In addition, both Polish and Russian samples are characterized by the presence of the Saami-speci?c U5b-motif (16144-16189-16270) found at a frequency of 0±5% in Poles and 1±5% in Russians.

Taking into account the data presented in Tables 6 and 7, one can conclude that we were not able to ?nd any speci?c combinations of unique mtDNA haplotypes and their subclusters clearly distinguishing Poles and Russians, as
Slavonic-speaking populations, from the neighboring European populations such as Germans and Finns. This trend was also noted in a previous study on the HVS I-RFLP variation in Russians in comparison with Western and Eastern
European populations (Malyarchuk & Derenko, 2001). One possible exception is subgroup U4a. This subgroup comprises 10 (2±3%) out of 436 Poles, 4 (2±0%) out of 201 Russians, 2 (0±4%) out of 560 Germans (Parson et al. 1998; Baasner & Madea, 2000) and 1 (0±25%) out of 403 Finns (Finnila$ et al. 2001a). Given the relatively high frequency and diversity of U4a among Poles and Russians and its low frequency in the neighbouring German and Finnish populations, one can suggest a central-eastern European origin of U4a. It is possible that the subsequent dispersal of this mtDNA subgroup in Eastern European populations was due to Slavonic migrations.


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