Short tandem repeat data analysis in a Mongolian population

Legal Medicine 5 (2003) S156–S159 www.elsevier.com/locate/legalmed

Short tandem repeat data analysis in a Mongolian population Tibor Varga a,*, Christine Keyser b, Zsuzsanna Beer a, Zsolt Penzes c, Horolma Pamzsav d, Klara Csete a, Bertrand Ludes b a

Department of Forensic Medicine, University of Szeged, P.O. Box 92, H-6724 Szeged, Hungary b Department of Forensic Medicine, University of Strasbourg, Strasbourg, France c Department of Ecology, University of Szeged, Szeged, Hungary d Institute of Forensic Medical Experts, Budapest, Hungary

Abstract Fifteen somatic (D8S1179, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, VWA, TPOX, D18S51, D5S818, FGA) and five Y-chromosome (DYS19, DYS390, DYS391, DYS392, DYS393) short tandem repeat (STR) system analyses were carried out in a Mongolian population in order to define the possible relationship between Mongolians and old Hungarian population. For STR data analysis the Microsoft Excel-PowerStats program was used. Interpopulation data analysis was performed with Arlequin Software ver. 2.000. The somatic markers showed meaningful difference between Mongolians and old Hungarians but the distribution of the Y-chromosome STR systems refers to a closer relationship between the old Hungarian and oriental populations. q 2003 Elsevier Science Ireland Ltd. All rights reserved. Keywords: Somatic analysis; Y-STR analysis; Population genetics

1. Introduction It is known that the Hungarian language belongs to the Finno-Ugric language family. Previously it was generally accepted that the Hungarians, the Finns and other Ugric peoples were related. The ancient historical data contradict the language relatedness, and the anthropological evidence also proves it. During the archaeological excavations several socalled Turanian-type skulls were found, indicating the ancient Hungarians had Mongoloid features. These Mongoloid-type Hungarian tribes met FinnoUgric peoples during migration, and so the suggested relatedness might base on the language rather than on the genes. Solantaus (personal communication, 2000) denied the genetic relatedness of the Finno-Ugric and * Corresponding author. Tel./fax: 136-62-545708. E-mail address: [email protected] (T. Varga).

the Hungarian tribes on the basis of the examination of the Y-chromosome STR groups of more than 20 Finno-Ugric and two different Hungarian ethnic groups. According to the ancient data, the Hungarian tribes were in contact with the Huns who had originated from the territory of present-day Mongolia. In our previous examinations [1] close connections were found in respect of some Y-chromosome short tandem repeat (STR) groups between recent Hungarian and Mongolian populations, however, no haplotype analyses had been carried out. As no comparative population genetic data are available, in the present paper 15 somatic (D8S1179, D21S11, D7S820, CSF1PU, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, VWA, TPOX, D18S51, D5S818, FGA) and five Y-chromosome (DYS19, DYS390, DYS391, DYS392, DYS393) STR systems were examined in a recent Mongolian population. The

1344-6223/03/$ - see front matter q 2003 Elsevier Science Ireland Ltd. All rights reserved. doi:10.1016/S134 4- 6223(02)0013 0-X

T. Varga et al. / Legal Medicine 5 (2003) S156–S159 Table 1 Possible divergence from Hardy–Weinberg equilibrium of each locus Locus

Obs. heterozygote

Exp. heterozygote

P value

D8S1179 D21S11 D7S820 CSF1PO D3S1358 THO1 D13S317 D16S539 D2S1338 D19S433 VWA TPOX D18S51 D5S818 FGA

0.78431 0.78431 0.77451 0.73529 0.72549 0.74510 0.93137 0.72549 0.84314 0.77451 0.80392 0.61765 0.84314 0.69608 0.81373

0.80783 0.77523 0.78552 0.75191 0.72274 0.75978 0.82459 0.79431 0.86555 0.83879 0.80252 0.63986 0.84951 0.72365 0.83923

0.42720 0.44613 0.85146 0.05546 0.02853 0.33209 0.30018 0.38535 0.39464 0.37850 0.83899 0.02564 0.20945 0.65298 0.51469

data were compared to the genetic data of mixed [2] and genetically homogeneous Hungarian, German [3,4] and Japanese [5,6] populations available in the literature.

2. Materials and methods Blood samples were collected after an informed consent from 102 Mongolian people (50 men and 52

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women) working in Hungary but originating from Mongolian parents. For somatic STR analyses DNA samples were amplified in a multiplex reaction with fluorescently labeled primers using the AmpFlSTR Identifiler kit (Applied Biosystems). The allele detection was performed with capillary electrophoresis (ABI Prism 3100 Genetic Analyzer). Data analysis was carried out using GeneScan Analyses Software ver. 3.2.1 and the allele typing with GeneMapper Software ver. 1.0.2. For Y-chromosome STR systems the DNA-s were amplified in single polymerase chian reactions [7,8] and the allele detection was performed partly with ABI Prism 310 Genetic Analyzer and partly with horizontal electrophoresis and silver staining. For STR data analysis the Microsoft ExcelPowerStat program (http://www.promega.com/genetididtools/powerstats/-11k) was used. Inter-population data analysis was performed with Arlequin Software ver. 2.000 [9].

3. Results and discussion Possible divergence from Hardy–Weinberg equilibrium was determined with an exact test using the Arlequin software ver. 2.000 (Table 1). Thirteen of the 15 somatic STR markers met the Hardy–Weinberg equilibrium, except D3S1358 and TPOX systems which could be due to some inbreeding effects.

Table 2 Forensic efficiency value for each locus Locus

Power of discrimination (PD)

Power of exclusion (PE)

Polymorphism informed content (PIC)

D8S1179 D21S11 D7S820 CSF1PO D3S1358 TH01 D13S317 D16S539 D2S1338 D19S433 VWA TPOX D18S51 D5S818 FGA

0.930 0.913 0.931 0.882 0.860 0.900 0.926 0.926 0.960 0.949 0.926 0.788 0.956 0.879 0.947

0.570 0.570 0.629 0.481 0.469 0.501 0.860 0.469 0.681 0.553 0.606 0.313 0.701 0.422 0.625

0.78 0.74 0.78 0.71 0.67 0.72 0.79 0.76 0.85 0.82 0.77 0.58 0.83 0.68 0.81

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Table 3 Population pairwise Fst-s in somatic markers Locus

Mongolian-Szekely

Mongolian-Japanese

Mongolian-German

D13S317 D3S1358 D7S820 FGA D5S818 VWA TPOX CSF1PO TH01 D8S1179 D21S11 D18S51

0.0177 0.0099 0.0071 0.0108 0.0066 0.0015

0.00309 0 00620 0.01479 0.00958 0.01998 0.00435 0.00143 0.00761 0.14570

0.02860 0 00023 0.01271 0.01331 0.01374 0.00467

0.00259 0.03269 0.02318

0.00476 0.02759 0.03086

Table 4 The observed haplotypes in Mongolian population Haplotype

DYS19

DYS390

DYS391

DYS392

DYS393

Observed

1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31

13 13 13 13 14 14 14 14 14 14 14 15 15 15 15 15 15 15 16 16 16 16 16 16 16 16 16/17 16/17 17 17 17

22 23 24 25 23 23 23 23 25 25 25 22 23 23 23 23 24 25 23 23 23 24 24 25 25 25 24 24 24 24 25

10 9 9 10 9 9 10 10 9 9 10 9 9 9 10 10 9 9 9 10 10 8 10 9 10 12 7 8 8 11 10

14 12 13 12 12 13 13 15 10 12 12 11 10 13 10 12 12 7 10 10 10 10 10 10 12 10 10 10 10 10 10

13 13 13 12/13 13 13 14 13 13 12/13 13 12 14 12 14 13 14 13 14 13 14 13 13 13 13 13 13 13 14 14 13

1 1 1 1 1 1 1 1 1 1 2 1 2 1 2 1 1 1 1 1 1 3 1 1 1 1 2 1 1 1 1

T. Varga et al. / Legal Medicine 5 (2003) S156–S159

Hungarian tribes arrived in the Carpathian Basin in two different waves.

Table 5 Population pairwise Fst-s by Y-haplotypes

Hungarian Mongolian Japanese German

Szekely

Hungarian

0.00798 0.01080 0.00874 0.01946

0.01386 0.01131 0.01549

Mongolian

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Japanese

Acknowledgements 0.00978 0.02492

0.02214

Power of discrimination (PD), power of exclusion (PE) and polymorphism informed content (PIC) was calculated by the Microsoft PowerStats program (Table 2). Nine somatic STR markers of Sze´ kely and Mongolian people were compared. Only three of the nine markers showed a significant difference between these populations (Table 3). During the five Y-chromosome STR analysis, altogether 31 haplotypes were identified (Table 4). The calculation of the genetic distance indicated that on the basis of the STR features of the Y-chromosome the present Hungarian population is at an equal genetic distance from the Japanese and the German populations, whereas the genetically more homogeneous isolated Sze´ kely population is nearer to the Eastern peoples. At the same time, however, our data contradict the Mongolian relatedness (Table 5). The difference observed between the mixed Hungarian and the closed and genetically cleaner Sze´ kely population seems to support the historical data of the so-called dual settlement, which means that the Hungarian and the Sze´ kely tribes – living in the Carpathian Mountains in present-day Romania – separated a relatively long time ago and not at the time of the settlement about 896 A.C. To clarify this hypothesis and the relatedness with the ancient Huns, further genetic and paleoserological analyses have to be carried out. In summary, it can be stated that the polymorph somatic markers do not provide exact information about the degree of possible relatedness. There are significant differences between the examined haplotypes of the Y-chromosome STR group of the examined populations and they support the closer relation of the Hungarian tribes and the Eastern peoples. Our data support the hypothesis that at around 896 the

This work was financially supported by the Hungarian Ministry of Education OTKA grant No. T-033093.

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