Mitochondrial DNA variability in Poles and Russians
B. A. MALYARCHUK", T. GRZYBOWSKI#, M. V. DERENKO", J. CZARNY#, M. WOZ; NIAK#
and D. MIS; CICKA-S; LIWKA#
" 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 (mtDNA) sequence variation was examined in Poles (from the Pomerania-
Kujawy region; nØ436) and Russians (from three diåerent regions of the European part of Russia;
nØ201), for which the two hypervariable segments (HVS I and HVS II) and haplogroup-speciÆc
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 identiÆed at 73 nucleotide sites in HVS I
(17±8%) and 31 sites in HVS II (7±73%). The classiÆcation 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 speciÆc 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, deÆned 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-speciÆc 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 Ænd any speciÆc 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.
Haplogroup M (further divided into C, D, E, G and Z) is considered to be Mongolid. So are A, B and F, though these were not found during this particular study.
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