Hereditas 132: 35-42 (2000)

MtDNA polymorphism in the Hungarians: comparison to three other

Finno-Ugric-speaking populations
PAIVI LAHERMO',2, VIRPI LAITINEN3, PERTTI SISTONEN4, JUDIT BERES',
VERONICA KARCAG16 and MARJA-LIISA SAVONTAUS's3
Department of Medical Genetics, University of Turku, Finland
Finnish Genome Center, University of Helsinki, Finland
Department of Genetics, University of Turku, Finland
Finnish Red Cross Blood Transfusion Service, Helsinki, Finland
Department of Human Genetics and Teratology, W H O Collaborating Center, National Center for
Epidemiology, Budapest, Hungary
Department of Biochemistry, National Institute of Environmental Health, Budapest, Hungary

Lahermo, P., Laitinen, V., Sistonen, P., Bkres, J., Karcagi, V. and Savontaus, M.-L. 2000. MtDNA Polymorphism in the
Hungarians: comparison to three other Finno-Ugric-speaking populations. -Hereditus 132: 35-42. Lund, Sweden. ISSN
0018-0661. Received August 19, 1999. Accepted January 10, 2000

Mitochondria1 DNA sequence variation as well as restriction site polymorphisms were examined in 437 individuals from
four Finno-Ugric-speaking populations. These included the Hungarians (Budapest region and the Csangos from Hungary
and Romania), the Finns and two Saami groups from northeastern Finland (Inari Saami and Skolt Saami), and the Erzas
from central Russia. The mtDNA data obtained in this study were combined with our previous data on Y chromosomal
variation for eight different loci in these populations. The genetic variation observed among the Hungarians resembled
closely that found in other European populations. The Hungarians could not be distinguished from the neighboring
populations (e.g., the Austrians) any more than from their Finno-Ugric linguistic relatives.

Piiivi Lahermo, Finnish Genome Center, University of Helsinki, P.O. Box 21 (Tukholmankatu 2), FIN-00014 University of
Helsinki, Finland. E-mail: paivi.lahermo@helsinki.fi

The Hungarians, Finns, Saami, and the Erzas are
each speakers of Finno-Ugric languages, one of the
largest mostly European group that does not belong
to Indo-European languages (RUHLEN1991). This
study has its focus on the Hungarians, whereas the
three other populations, the Finns, Erzas, and Skolt
Saami, represent Finno-Ugric speakers, who have
clearly different population histories, both from each
other, and from the Hungarians.
The Finno-Ugric language group was dispersed by
the end of the 3'd millennium BC. The present-day
living area of the Finno-Ugric populations extends
from east of the Ural Mountains in Central Russia to
northern parts of Scandinavia in the north, and south
of the Danube River in the south. The area around
the large bend of the Volga River east of Moscow,
where e.g., the present day Erza live (Fig. l), has
traditionally been considered to be the original living
area of the ancestors of the present-day Finno-Ugric-
speaking populations (e.g., KORHONEN1991). How-
ever, the idea of a geographically defined "home-
land", previously in vogue, has largely been rejected
during the past few years.
According to historical evidence, the ancestors of
the Hungarians settled in the Carpathian Basin in 895
AD after two millennia of migration towards west.
The Basin has been a crossroads of migrations for
many different ethnic groups, and the Hungarians
have had extensive contacts with various different
population groups, especially Turkish peoples, even
before their arrival to the Carpathian Basin. As far as
known, the Hungarians are the only Finno-Ugric
speaking group that has adapted to an equestrian-
pastoral way of life. Today, one of their few stronger
ties to the other present day Finno-Ugric groups is
the language, their closest linguistic relatives being
the Ob-Ugrians, who still live in the wooded steppe
west of the Ural Mountains (FODORand CZEIZEL
1991).
The Csango group consists of approximately
120,000 individuals who live in comparative isolation
in Hungary and Romanian Moldova. Besides of their
language the Csangos in Romania have remained
separated from the rest of the Romanian population
also partly because of their Catholic religion. The
origin of the Csangos is disputed, but they are re-
garded as ethnic Hungarians (ANDRASFALVY and
KELEMEN1991). They were the Hungarian popula-
tion who had the least in common with the other
Hungarian ethnic groups (e.g., the OrsCg and Jasz)
(CZEIZELet al. 1991). Also Csangbs have been con-
sidered to be a population group that has preserved
36 P . Lahermo et al.
most of the ancient Finno-Ugric and Iranian genetic
traits among the Hungarian populations
(GUGLIELMINO and BBRES 1996).
Mitochondria1 DNA variation in the Finno-Ugric-
speaking populations has been analyzed in a growing
number of studies (e.g., VILKKIet al. 1988; SAJAN-
TILA et al. 1995; LAHERMO et al. 1996, TORRONIet
al. 1996) during the recent years. Other genetic data
for these populations are available mainly on poly-
morphic protein and blood group markers (e.g.,
NEVANLINNA 1972; ERIKSSON 1973, 1988;
GUGLIELMINO et al. 1990) and lately on Y chromo-
somal variation (SAJANTILA et al. 1996; ZERJALet al.
1997; KITTLESet al. 1998). Based on classical mark-
ers, the contribution of Uralic genes among the Hun-
garians has been estimated to amount to 13 YO
( f 2.3 YO)(GUGLIELMINO et al. 1990).
In this work we analyze the mitochondrial DNA
variation and population structure among two differ-
ent samples of the Hungarian population; a mixed
group of Hungarians living in the Budapest area, and
the Csangos. The Budapest Hungarian sample in this
study represents the total genetic variation in the
Hungarian population, whereas the Csangos repre-
sent a isolated subpopulation among the Hungarians.
For comparison we analyze the mtDNA variation in
three other Finno-Ugric populations; the Finns,
Saami, and Erzas. In addition, the Y chromosomal
variation found in our previous study (LAHERMOet
al. 1999) is discussed in further detail, and is com-
pared with the variation of mitochondrial DNA.
4 as the fragment-size standard. DNA fragments were
Fig. 1. Living areas of the four Finno-Ugric-speaking pop-
ulations. 1 Hungarians (including Csangos, 2 Finns, 3
Saami, 4 Erzas.
Hereditas 132 (2000)
MATERIALS AND METHODS
D N A Samples
A total of 146 Hungarian DNA samples were col-
lected, with informed consent from the individuals,
by the staff of the Department of Human Genetic
and Teratology, National Center for Epidemiology,
Hungary. 68 of these were ethnic Csangos from Hun-
gary and Romania, and 78 were individuals of mixed
Hungarian origin living in Budapest. For compari-
son, samples of 57 Finns from various regions of
Finland, 48 Skolt Saami from north-eastern Finland,
127 Saami from the Inari Lake region in northern
Finland (from our previous study (LAHERMO et al.
1999), and 59 Erzas from Central Russia (Fig. 1)
were included in the study. The Finnish samples were
obtained from the Finnish Red Cross Blood Transfu-
sion Center and the Saami samples were collected by
the local health care centers. Some of the samples in
this study have already been partly analyzed in (SA-
JANTILA et al. 1995; LAHERMOet al. 1996; 1999).
Total DNA was extracted from lymphocytes by using
standard organic extraction protocols (e.g., in VILKKI
et a]. 1988).
Restriction -Site Analysis of mtDNA
The entire mtDNA of each sample was amplified in
nine overlapping fragments as in TORRONIet al.
1992, by PCR (SAIKI et al. 1985). PCR was per-
formed as described in LAHERMOet al. 1996 and
TORRONIet al. 1996. Each of the nine PCR products
was then digested with 14 (Alul, AuaII, BamHI, Ddel,
HaeII, HaeIII, Hhal, Hincll, Hinfl, HpaI, Mspl,
MboI, RsaI, TaqI) or six (AuaII, BamHI, Haell,
HincII, HpaI, Mspl) restriction endonucleases, one at
a time. Alternatively, the eleven short fragments were
amplified and digested with a subset of the described
enzymes as in (TORRONI et al. 1996). Following
digestion, restriction fragments were separated by
running the samples in 1 % SeaKem LE-agarose or
1 YOSeaKem LE + 1 YONuSieve agarose gels stained
with 0.5 mg ethidium bromide/ml. Boehringer
Mannheim DNA molecular-weight marker VI served
visualized under UV light, and the results recorded.
In ambiguous cases, samples were sequenced to verify
the true nature of the polymorphism.
Based on restriction-site data, both mtDNA haplo-
types and haplogroups were determined according to
the protocols described in e.g., VILKKIet al. 1988 and
TORRONIet al. 1994a, 1996. Samples that did not fit
any of the European-specific haplogroups in (TOR-
RONI et al. 1996) were screened for the presence of
polymorphisms defining the Asian-specific hap-
logroups (BALLINGER et al. 1992; TORRONIet al.
1993; 1994b).
Hereditas 132 (2000) MtDNA polymorphism in Finno - Ugric-speaking populations 37

Sequence Analysis of mtDNA inal input space into a lower dimensional (typically 2
dimensional) space in such a way that the distances
To investigate the sequence polymorphism in between the samples in their original space are pre-
mtDNA, two segments of the mitochondria1 control served in the mapping space. Sammon stress is a
region (D-loop) were amplified by PCR. A 404-bp measure of the goodness of the mapping: the lower
fragment of the hypervariable region I (HV-I) and a value the Sammon stress has the better the distances
460 bp fragment of the hypervariable region 11 (HV-
are preserved. Reduced median networks based on
11) were amplified for 35 cycles by using primers as
combined mtDNA sequence and haplogroup data
described in VIGILANTet al. 1989. The amplified
(BANDELT et al. 1995) were calculated as in
PCR products were purified from a 0.8 YOSeaKem
RICHARDSet al. (1996).
LE agarose gel by phenol/chloroform or by using
QIAquick spin columns (QIAGEN Inc).
After purification, a 360 bp (nucleotides 16024-
RESULTS
16383 of the Cambridge sequence (ANDERSONet
al. 1981) segment of the HV-I region and a 389 bp Sequence diversity
(nucleotides 28-417) segment of the HV-I1 region
Differences were found in the numbers of shared
were sequenced using an ABI PRISMTM377 auto-
mtDNA sequences within the populations. For exam-
matic sequencer as recommended by the manufac-
ple, 75 % of the Csangits shared their HVR-I se-
turer (Perkin Elmer Applied Biosystems). Sequencing
quence with at least one other Csang6 individual
reactions were performed using ABI PRISMTM
(Table 1, Appendix, obtainable upon request),
DyePrimer and DyeTerminator Cycle Sequencing
whereas only 30 YOof the Hungarians from the Bu-
Ready Reaction Kits or, alternatively, ABI PRISMTM
dapest area did share their sequences with each other.
BigDye Primer and dRhodamine Terminator Cycle
This difference between the Hungarian populations
Sequencing Ready Reaction Kits supplied by Perkin
was even more striking when comparing combined
Elmer. The samples were also analyzed for the pres-
HVR-I & HVR-I1 sequences (13 shared sequences
ence or absence of the intergenic 9-bp deletion of a
out of 40 different mtDNA sequences among the
tandem repeat between the genes for COII and tR-
Csang6s vs. 3/72 among the Budapest Hungarians.
NALys, at nucleotides 8272-8289 (CANN and
The difference between the different distributions of
WILSON 1983; WRISCHNIKet al. 1987), previously
shared sequences was statistically supported by x2-
considered as a marker of eastern origin.
test and Wilcoxon rank sum test at probability of
Statistical Evaluation
> 99.5 %) Both Finns and Erzas had approximately
50 % shared sequences within the population. The
Intra- and interpopulation mean pairwise sequence most strikingly homogeneous population, what
differences, as well as genetic distances, were calcu- comes to shared sequences within the group, was the
lated on the basis of the mtDNA data obtained in Skolt Saami, who harbored only six different HVR-I
this study. F,,-values were calculated using the Ar- sequences, amounting to 92 % shared sequences be-
lequin 1.1 software (SCHNEIDER et al. 1997) and the tween individuals in this population.
significance of genetic distances tested by permuta- The most common shared sequence between the
tion test implemented in the program. From the populations (Table 1) in this study was the Cam-
several evolution models available, all giving compat- bridge consensus sequence (ANDERSONet al. 1981)
ible results, that of Tajima and Nei was selected for that was found in all populations, with the exception
HVR data (TAJIMA and NEI 1984) while pairwise of the Skolt Saami. The two Hungarian populations
differences were used with the restriction haplotype shared 12 mtDNA lineages, including approximately
frequency data. After bootstrapping the original se- 30 % of the individuals in both populations. The
quence data using the SEQBOOT program of the Austrian reference population (PARSONSet al. 1998)
PHYLIP 3.572 program package (FELSENSTEIN had 9 shared sequences with the Hungarians, com-
1999, the genetic distances required for Sammon prising approximately 20 YOand 30 % of the Hun-
mapping (SAMMON1969) were computed by using garian and Austrian individuals, respectively. The
the program DNADIST. Prior to construction, the Finno-Ugric speaking populations, with the excep-
between population means were estimated from boot- tion of the Skolt Saami, also had a comparatively
strapped genetic distances by using the program high number of identical sequences with the Hungar-
NEIREP (courtesy of Dr. L.B. Jorde). Sammon map- ian populations (3 to 7 shared sequences, comprising
ping (SAMMON1969) belongs to a class of multidi- approximately 13 YOto 41 % of the individuals in the
mensional scaling algorithms. The purpose of the respective populations). In contrast, the number of
Sammon mapping is to map samples from their orig- shared sequences between the Hungarians and the
38 P. Lahermo et al. Hereditas I32 (2000)

Table 1. Individuals with shared mtDNA sequences (HVR-I), intra- and interpopulation comparisons. A ) The
numbers on the diagonal illustrate the percentage the shared lineages in the population. The numbers in the upper
triangle illustrate the number (n = ) of duerent shared sequences between the populations. B) The percentage of
the shared sequences in the population identq5ed in the first column. E.g., 3 different shared sequences between the
Finns and the Csangbs amount to 22.8 % of the Finnish individuals analyzed in this study, whereas the same
sequences cover 13.2 % of the Csangb individuals
KUN FIN CSA HUN SKO ERZ TOS BUL TUR AUS

A.
!KUNG 60 0 0 0 0 0 0 0 0 0
FINNS 56 3 7 2 3 2 1 2 8
CSANGOS 75 12 1 4 4 4 1 S
M. HUNGARIANS 30 1 8 5 6 1 9
SKOLTS 92 1 0 0 0 1
ERZAS 55 4 4 2 6
TOSCANANS 23 3 4 4
BULGARIANS 47 1 5
TURKS 17 3
AUSTRIANS 46
3.
KUN FIN CSA HUN SKO ERZ TOS BUL TUR AUS
!KUNG -+ 0 0 0 0 0 0 0 0 0
FINNS f 0 23 35 4 28 23 18 18 30
CSANGOS + 0 13 32 6 18 1s 13 3 19
M. HUNGARIANS + 0 18 28 3 21 1s 19 9 22
SKOLTS -+ 0 60 49 49 49 0 0 0 49
ERZAS + 0 29 26 41 3 26 22 21 33
TOSCANANS -+ 0 21 6 21 0 27 21 19 27
BULGARIANS -+ 0 10 30 50 0 23 30 10 33
TURKS + 0 10 10 10 0 14 10 10 17
AUSTRIANS + 0 29 29 33 1 29 28 29 24

Turkish (CALAFELL et al. 1996) populations was
lower (1 shared sequence with both of the Hungarian
populations, comprising approximately 3 YO-10 %
of the individuals in the respective populations). Al-
together, the Hungarians, or the other Finno-Ugric-
speaking populations, did not show significantly
more similarities with each other than with the Indo-
European, here specifically Austrian, reference popu-
lation. The Skolt Saami shared two of their lineages
with the Finns (comprising 60 % of the highly homo-
geneous Skolt Saami sample), and only one of the
two with the other three Finno-Ugric-speaking popu-
lations (still comprising 49 % of the Saami sample) in
this study. The only non-Finno-Ugric-speaking popu-
lation that shared sequences with the Saarni was the
Austrians.
In the reduced median networks built from the
combined sequence and haplogroup data the distribu-
tion of mtDNA types found among the Hungarians
overlapped strongly with that observed in the other
populations, whether Finno-Ugric or Indo-European.
Neither did the Hungarian types form strong clusters.
The same observation is valid for the Finns and the
Erzas. (Data not shown).
The mean pairwise sequence differences for the
combined HVR-I and HVR-I1 regions were also cal-
culated. The lowest intra-population mean pairwise
sequence difference (5.5) among the four Finno-
Ugric-speaking populations was observed in the Skolt
Saami and the highest (9.3) in the Csangos. The
inter-population differences among the four popula-
tions did not vary significantly from each other. The
genetic distances (FST) among the four populations
were of the same order of magnitude among the
Finno-Ugric-speaking populations (with the excep-
tion of the Saami) and the other European popula-
tions (Table 2). Distances are also illustrated in the
Sammon maps (Fig. 2).
Haplogroup diversity
The relationship of haplogroups vs. sequence varia-
tion among all of the four Finno-Ugric populations
follows closely the associations presented in T o R R o N r
et al. (1996). The diversity of mtDNA haplogroups
found in the Hungarians, Finns, and Erzas resembled
that found in the other European populations (TOR-
RONI et al. 1996). The Asian haplogroup M was
found in the Finns, Erzas, and Saami (3, 2, and
5-10 YOof the individuals, respectively), but not in
Hereditas 132 (2000) MtDNA polymorphism in Finno - Ugric-speaking populations 39

any of the Hungarian individuals analyzed in this
study. None of the individuals belonged to other
Asian haplogroups. A few Hungarian samples could
not be placed in any of the currently known hap-
logroups based either on their sequence or RPFL
data (Table 3). The two Saami populations were
significantly different from the other populations
(Table 2b and 3) but also from each other. The
haplogroup H, the most common one in Europe, was
totally absent in the Skolt Saami, and it was found in
only two out of 127 Inari Saami individuals. The two
most common haplogroups in the Saami were the
haplogroups U and V, both of which are found in
other European populations, but with much lower
frequencies.
The Sammon map construction based on mtDNA
sequence and haplogroup data gave essentially the
same results. The both Saami populations were far
separated from all the other populations (Fig. 2),
whereas the other European populations were
grouped together. For comparison the Sammon map-
ping was also performed on the Y chromosomal
haplotype data, published earlier in LAHERMO et al.
1999 (Fig. 2).
DISCUSSION
Population structure among the Hungarians
The results of the present study on mtDNA further
support the earlier conclusions based on Y chromo-
soma1 (LAHERMO et al. 1999) and other genetic data.
Although the diversity values did not differ signifi-
cantly between the Hungarian population samples,
the distribution of the mtDNA sequences (Appendix,
obtainable upon request), as well as Y-chromosomal
haplotypes (LAHERMOet al. 1999), was different
among the Csangos and their countrymen from the
Budapest area suggesting founder effect and genetic
drift in the relatively small and isolated population.
The Csangos have lived in Romania in self-sufficient
village communities isolated from the main Roma-
nian population by their Hungarian language and
culture and their Roman Catholic religion. In the
1940s many of them immigrated to the present-day
Hungary (FODORand CZEIZEL1991). The popula-
tion group from the Budapest area was more hetero-
geneous than the other Finno-Ugric groups in the
present study. This does not come as a surprise, as we
can consider about this area as an ethnic melting pot
of various Hungarian and other ethnic groups. Possi-
bly other small population groups of Hungary be-
sides the Csangos would also have shown differences
from the Budapest population.
The genetic relationships between the Hungarians and
other populations
This study further supports the earlier findings con-
sidering the Finno-Ugric-speaking populations (LA-
HERMO et al. 1996; TORRONIet al. 1996). The
mtDNA variation in the Hungarians, Finns, and in

Table 2. Slatkin linearized FSTs as t l M = F S T / ( l - FST) x 100 shown for HVR-sequence (a) and restriction
haplotype (b) data. ( M = N for haploid data)

Fin Csa Hun Sko Erz Tos Bul Tur Aus

(a)
Finns
Csangos 1.5
-
Hungarians 1 .o
- 0.5
Skolts 12.6 16.4 14.8
Erzas -
1.7 0.5 0.0 17.0
-
Toscanans 1.2
- 0.6 0.0 17.6 0.0
Bulgarians 0.7 0.9 0.2 -
19.8 0.2 0.0
Turks 1.5
- -
1.4 0.0 -
17.8 0.8 0.0 0.4
Austrians 0.9
- 0.5 0. I 16.6 0.1 0.0 0.0 0.7
Pygmies 156.8-140.1 139.8
~ 235.5
~ 157.6
__ 135.6
~ 159.1
~ 106.2
__ 155.6
__
(b) Fin Csa Hun Sko Saa Erz Swe
Finns
Csangos 0.0
Hungarians 0.1 0.4
Skolts 22.1 -
19.2 24.5
Saami -
24.0 -
21.5 28.1 17.6
Erzas 0.3 0.0 0.0 20.2
- -
25.2
Swedes 3.0
- 0.0 5.1 26.s -
31.1 2.1
Toscanans 0.3 0.0 0.0 27.3 -
34.2 0.0 1.9
Figures underlined denote that the distance is significantly different from zero with p 2 0.05
40 P . Lahermo et al. Hereditas 132 (2000)

tions did not show a special genetic connection to the

+SWE
02- other Finno-Ugric groups. E.g., the genetic distances
+lTA
were in most cases approximately similar between
01- +ERZ+CS~
both the Hungarians and the other Finno-Ugric-
0- +HUN
speaking populations, or the Hungarians and the
-01 - +lNA Indo-European-speaking populations. Turkish or
Slavonic influences could not be detected in the
-O21
-0 3
analyses. Furthermore, based on both the mtDNA
data and Y chromosomal data, no clear portion of
the genetic background of the Hungarians can be
-0 5 +SKO separated from the common European gene pool,
-02 -01 0 01 02 03 04 05 and traced to separate Finno-Ugric sources. This was
further supported by the absence of the Tat polymor-
Sammon mapping: Sammon stress=0.0064 phism (ZERJALet al. 1997), conspicuously a Finno-
Ugric feature. The reason why the Hungarians still
retained their Finno-Ugric language and ethnic iden-
tity may be that newly accepted population elements
always remained a minority both in size and in their

O:
-2
\ 1 +AUS

+HUN
+ERZ
-BUL role in the community power structure. Also, the
distinctiveness of the Hungarian as a Finno-Ugric
language may have hindered interaction with other
+TOS
peoples (FODOR and CZEIZEL1991).
Although Y-chromosomal as well as mitochondria1
variation in the Hungarians falls within the European
variation, some special Hungarian features exist.
Most notably, the Y specific Alu insertion Yap
12 , tIKU , , , (HAMMER1994; HAMMERand HORAI 1995) was
-2 0 2 4 6 8 -10 -8 -6 -4 unexpectedly common in the Hungarians (17.5 Y ) ,
I0. I 0.
especially in the Csango group (39 YO).None of the
Sammon mapping: Sammon stress=0.0374 individuals harboring the Yap insertions shared the
microsatellite haplotype consisting of the Yap inser-
tion, the Tat polymorphism, and the six microsatellite
C markers (ARNEMANNet al. 1988; ROEWERet al.
2l 1992, 1996) with other European populations in our
fLAT studies, although closely related haplotypes were
+SKO found infrequently among the Karelians and the Lat-

,+YAK
vians. Therefore, it seems possible that part, although
not all, of the Yap insertion haplotypes found among
the Hungarians have originated from the same source
as the insertion haplotypes in Northern Europe. Since
-05/ , +A +KAR +or , ,
1
we do not know the frequency and the haplotype
background in the neighboring areas we can not
-1 5
speculate whether the more different Yap insertion
2
-2 -15 -1 -05 0 05 1 1 5 2
haplotypes have their origin elsewhere, e.g., in the
Turkish, Iranian, or Slavonic populations.
Sammon Mapping: Sammon stress=0.0027 The absense of East Asian haplogroups excludes
the possibility of strong Eastern effect on the Hun-
Fig. 2. Sammon maps for mtDNA haplogroup (a) and garian population, and further supports our interpre-
mtDNA sequence (b), and Y chromosomal data (c).
tation of the Hungarians as being an
indistinguishable part of the common European gene
the Erzas may be placed in a gene pool common to pool. The presence of haplogroup M in the Finns,
Europeans, whereas the genetic distances between the Erzas, and Saami suggests some, albeit not strong,
Saami and the other Europeans remain significantly Eastern gene flow. Still, the high percentage (10 YO)
longer. The mtDNA lineages or restriction enzyme of haplogroup M among the Skolt Saami is more
morphs (haplogroups) of the two Hungarian popula- likely a result of genetic drift and other chance effects
Hereditas 132 (2000) M t D N A polymorphism in Finno - Ugric-speaking populations 41

Table 3. M t D N A haplogroup frequencies

Finns' Skolt Saami Inari Saami Erzas Csangos Hungarians Swedes' Italians'

H 0.42(44) 0 0.02(2) 0.36(2 1) 0.37(25) 0.37(29) 0.4 1( 15 ) 0.42(20)

I O.Ol(1) 0 0 0.07(4) O.Ol(1) 0 0 0.04(2)
J 0.08(9) 0 0.04(5) 0.14(8) O.lO(7) 0.17( 13) 0.03( 1) 0.15(7)
K 0.03(3) 0 0 0.03(2) 0.06(4) 0.04(3) 0.14(5) 0.0613)
M 0.03(3) O.lO(5) 0.05(6) 0.02(1) 0 0 0 0
T 0.05(5) 0 0 0.09(5) 0.12(8) 0.03(2) 0.22(8) O.lO(5)
U 0.22(23) 0.38(19) 0.66(84) 0.19(11) 0.22(15) 0.17(13) 0.16(6) O.lO(5)
V 0.04(4) 0.52(26) 0.17(21) 0.05(3) 0.06(4) 0.04(3) 0.05(2) 0
W 0.06(6) 0 0 0 0.03(2) 0.05(4) 0 0.02(1)
x 0.04(4) 0 0 0.02( 1) 0.01(1) O.Ol(1) 0 0.08(4)
Others or? 0.04(4) 0 0.07(9) 0.02(2) 0.01(1) 0.12(9) 0 0.02(1)
Total 106 50 127 58 68 77 37 48

References' (TORRONIet al. 1996) and this study

than a sign of substantial Eastern influence in that
small population. Although the Saami show longer
genetic distances, most of e.g., mtDNA haplogroups
found among them (90 % in the Skolt Saami, and
88 YOin the Inari Saami, haplogroups U and V) fall
within the haplogroup variation found throughout
the Europe. On the other hand, it must be noted that
the haplogroup H, found in approximately 40 YOof
individuals in all other European populations studied
this far is virtually absent in the Saami. This suggests
that either the Saami have gone through a drastic
genetic drift or founder effect, or that an important
part of the genetic background of the Saami comes
from a source not shared with the majority of Eu-
ropean populations, whether Finno-Ugric or Indo-
European. Of these hypothesis based on both genetic,
linguistic, and historical evidence the first seems the
more likely to be the dominating factor behind the
observed differences, although also the latter plays
it's part to smaller extent.
Conclusions
The Csangos and the mixed sample of ethnic Hungar-
ians from the Budapest area share most of their
genetic background with each other. Still, the struc-
ture of mtDNA and Y chromosomal variation
among the CsBngos differ slightly from the Budapest
Hungarians, indicating that, although they clearly
show the same origins with the other Hungarians,
they have lived in comparative isolation until re-
cently. The Budapest area, on the other hand, is a
mixture of several subgroups. MtDNA variation in
the Hungarians can be seen as a part of the common
European gene pool, while it is not possible to sepa-
rate a major genetic component that could be traced
back to Finno-Ugric speaking ancestors. The genetic
structure of the Hungarian population suggests long
standing connections to other European populations,
with influences from the Indo-European sources be-
ing more evident than those from e.g., the Turkish
sources.
ACKNOWLEDGEMENTS
We wish to express our thanks to all our blood donors.
This work was supported by grants 38826 and 42183 from
the Academy of Finland.
REFERENCES
Anderson S, Bankier AT, Barrel1 BG, de Bruijn MHL,
Coulson AR, Drouin J, Eperon IC, Nierlich DP, Roe
BA, Sanger F, Schreier PH, Staden R and Young IG,
(1981). Sequence and organization of the human mito-
chondrial genome. Nature 290: 457-465.
Andrasfalvy B and Kelemen A, (1991). Ethnic groups in
Hungary. The Csango group. In: Genetics of the Hun-
garian population. (eds. A Czeizel, H G Benkmann, HW
Goedde), AkadCmai Kiad6, Budapest, p. 59-64.
Arnemann J, Jakubiczka S, Schmidtke J, Schafer R and
Eppelen JT, (1988). Clustered GATA repeats (Bkm se-
quences) on the human Y chromosome. Hum. Genet.
80: 317-321.
Ballinger SW, Schurr TG, Torroni A, Gan YY, Hodge JA,
Hassan K, Chen K H and Wallace DC, (1992). Southeast
Asian mitochondrial DNA analysis reveals genetic conti-
nuity of ancient mongoloid migrations. Genetics 130:
139- 152.
Bandelt H-J, Forster P, Sykes BC and Richards MB,
(1995). Mitochondria] portraits of human populations
using median networks. Genetics 141: 743-753.
Calafell F, Underhill P, Tolun A, Angelicheva D and
Kalaydjieva L, (1996), From Asia to Europe: mitochon-
drial DNA sequence variability in Bulgarians and Turks.
Ann Hum Genet 60: 35-49.
Cann RL and Wilson AC, (1983). Length mutations in
human mitochondrial DNA. Genetics 104: 699-71 1.
Czeizel A, Benkmann H G and Goedde HW, (1991). Con-
clusions. In: Genetics of the Hungarian population. (eds.
A Czeizel, H G Benkmann, HW Goedde), Akademai
Kiado, Budapest, p. 307-332.
42 P. Lahermo et al.
Eriksson AW, (1988). Anthropology and health of Lapps.
Coll. Anthropol. 2: 197-235.
Eriksson AW, (1973). Genetic polymorphism in Finno-
Ugrian populations. Isr J. Med. Sci. 9: 1156-1170.
Felsenstein J, (1995). PHYLIP (Phylogeny inference pack-
age) version 3.57~.University of Washington, Seattle.
Fodor I and Czeizel A, (1991). The origins of the Hungar-
ian population. In: Genetics of the Hungarian popula-
tion. (eds. A Czeizel, HG Benkmann, HW Goedde),
Akadtmai Kiad6, Budapest, p. 7-21.
Guglielmino CR and BCres J, (1996). Genetic structure in
relation to the history of Hungarian ethnic groups. Hum
Biol 68: 335-355.
Guglielmino CR, Piazza A, Menozzi P and Cavalli-Sforza
LL, (1990). Uralic genes in Europe. Am. J. Phys. An-
thropol. 83: 57-68.
Hammer M F and Horai S, (1995). Y chromosomal DNA
variation and the peopling of Japan. Am. J. Hum.
Genet. 56: 951-962.
Hammer MF, (1994). A recent insertion of an Alu element
on the Y-chromosome is a useful marker for human
population studies. Mol. Biol. Evol. 11: 749-761.
Kittles RA, Perola M, Peltonen L, Bergen AW, Aragon
RA, Virkkunen M, Linnoila M, Goldman D and Long
JC, (1998). Dual origins of Finns revealed by Y chromo-
some haplotype variation. Am. J. Hum. Genet. 62:
1171- 1180.
Korhonen M, (1991). Uralin talla ja tuolla puolen. In:
Uralilaiset kansat. (ed. J Laakso), WSOY, Helsinki, p.
20-48.
Lahermo P, Savontaus ML, Sistonen P, Beres J, de Knijff
P, Aula P and Sajantila A, (1999). Y chromosomal
polymorphisms reveal founding lineages in the Finns
and the Saami. Eur. J. Hum. Genet. 7: 447-458.
Lahermo P, Sajantila A, Sistonen P, Lukka M, Aula P,
Peltonen L and Savontaus M-L. (1996). The genetic
relationship between the Finns and the Finnish Saami
(Lapps): Analysis of nuclear DNA and mtDNA. Am. J.
Hum. Genet. 58: 1309-1322.
Nevanlinna HR, (1972). The Finnish population structure:
a genetic and genealogian study. Hereditas 71: 195-236.
Parsons W, Parsons TJ, Scheithauer R and Holland MM,
(1998). Population data for 101 Austrian Caucasian
mitochondrial DNA d-loop sequences: application of
mtDNA sequence analysis to a forensic case. Int. J.
Legal. Med. 111: 124-132.
Richards M, CBrte-Real H, Forster P, Macaulay V,
Wilkinson-Herbots, Demaine A, Papiha S, Hedges R,
Bandelt H-J and Sykes B, (1996). Paleolithic and Ne-
olithic lineages in the European mitochondrial gene
pool. Am, J. Hum. Genet. 59: 185-203.
Roewer L, Kayser M, Dieltjes P, Nagy M, Bakker E,
Krawczak M and de Knijff P, (1996). Analysis of molec-
ular variance (AMOVA) of Y-chromosome-specific mi-
crosatellites in two closely related human populations.
Hum. Mol. Genet. 5:1029-1033.
Roewer L, Arnemann J, Spurr NK, Grzeschik K H and
Epplen JT, (1992). Simple repeat sequences on the hu-
man Y chromosome are equally polymorphic as their
autosomal counterparts. Hum. Genet. 89: 389-394.
Ruhlen M, (1991). A guide to the worlds languages, Vol 1.
Classification. Edward Arnold, London.
Saiki RK, Scharf S, Faloona F, Mullis KB, Horn GT,
Erlich HA and Arnheim N, (1985). Enzymatic amplifica-
tion of beta-globin genomic sequences and restriction
Hereditas 132 (2000)
site analysis for diagnosis of sickle cell anemia. Science
230: 1350-1354.
Sajantila A, Salem AH, Savolainen P, Bauer K, Gierig C
and Paabo S, (1996). Paternal and maternal DNA lin-
eages reveal a bottleneck in the founding of the Finnish
population. Proc. Natl. Acad. Sci. USA 93: 12035-
12039.
Sajantila A, Lahermo P, Anttinen T, Lukka M, Sistonen P,
Savontaus M-L, Aula P, Beckman L, Tranebjaerg L,
Gedde-Dahl T, Issel-Tarver L, DiRienzo A and Paabo
S, (1995). Genes and languages in Europe: an analysis of
mitochondrial lineages. Genome Res 5: 42-52.
Sammon JW Jr, (1969). A nonlinear mapping for data
structure analysis. IEEE Transactions on computers Vol
C-18, 5: 401-409.
Schneider S, Kueffer JM and Roessli D, Excoffier L:
Arlequin ver 1.1, (1997); University of Geneva, Geneva.
Tajima F and Nei M. (1984). Estimation of evolutionary
distance between nucleotide sequences. Mol Biol Evol. 1:
269-285.
Torroni A, Huoponen K, Francalacci P, Petrozzi M,
Morelli L, Scozzari R, Obinu D, Savontaus M-L and
Wallace DC, (1996). Classification of European mtD-
NAs from an analysis of three European populations.
Genetics 144: 1835-1850.
Torroni A, Lott MT, Cabell MF, Chen Y-S, Lavergne L
and Wallace DC, (1994a). MtDNA and origin of Cau-
casians. Identification of ancient Caucasian-specific hap-
logroups, one of which is prone to a recurrent somatic
duplication in the D-loop region. Am. J. Hum. Genet.
55: 160-776.
Torroni A, Miller JA, Moore LG, Zamudio S, Zhuang J,
Droma T and Wallace DC, (1994b). Mitochondria1
DNA analysis in Tibet: implications for the origin of the
Tibetan population and its adaptation to high altitude.
Am. J. Phys. Anthropol. 93: 189-199.
Torroni A, Schurr TG, Cabell MF, Brown MD, Nee1 JV,
Larsen M, Smith DG, Vullo CM and Wallace DC,
(1993). Asian affinities and continental radiation of the
four founding Native American mtDNAs. Am J Hum
Genet 53: 563-590.
Torroni A, Schurr TG, Yang C-C, Szathmary EJE,
Williams RC, Schanfield MS, Troup GA, Knowler WC,
Lawrence DN, Weiss KM and Wallace DC, (1992).
Native American mitochondrial DNA analysis indicates
that the Amerind and the Nadene populations were
founded by two independent migrations. Genetics 130:
153-162.
Vigilant L, Pennington R, Harpending H, Kocher T D and
Wilson AC, (1989). Mitochondria1 DNA sequences in
single hairs from a southern African population. Proc.
Natl. Acad. Sci. USA 86: 9350-9354.
Vilkki J, Savontaus M-L and Nikoskelainen EK, (1988).
Human mitochondrial DNA types in Finland. Hum.
Genet. 80: 317-321.
Wrischnik LA, Higuchi RG, Stoneking M, Erlich HA,
Arnheim N and Wilson AC, (1987). Length mutation in
human mitochondrial DNA: direct sequencing of enzy-
matically amplified DNA. Nucleic Acids Res 15: 529-
542.
Zerjal T, Dashnyyam B, Pandya A, Kayser M, Roewer L,
Santos FR, Schiefenhovel W, Fretwell N, Jobling MA,
Harihara S, Shimizu K, Semjidmaa D, Sajantila A, Salo
P, Crawford MH, Ginter EK, Evgrafov OV and Tyler-
Smith C, (1997). Genetic relationships of Asians and
Northern Europeans, revealed by Y-chromosomal DNA
analysis. Am. J. Hum. Genet. 60: 1174-1 183.