Laboratories worldwide are contributing to a large and growing database for
different populations. This study provides a 10 STR database for a population
sample of Polish Tatars living in the area of Podlasie for the use as a highly
discriminatory system of genetic markers in the forensic community. The genotype
frequency distributions showed no deviations from the Hardy-Weinberg
equilibrium (HWE) except for D3S1358, FGA, D18S51 and D16S539, based on
the Fisher Exact Test. Significant differences between the Polish Tatars and the
native population of Podlasie were found in loci D3S1358, FGA, D2S1338,
D21S11 and D19S433. The combined values of the Matching Probability and of
the Power of Exclusion are 1 in 2.83 x 10-12 and 0.998, respectively

A, Niemcunowicz-Janica

E, Koc-Żórawska

J, Janica

M, Aleksandrowicz-Bukin

M, Skawrońska

W, Pepiński

English

Via Medica Journals

Folia Morphol. Vol. 63, No. 2, pp. 249–252Copyright © 2004 Via MedicaISSN 0015–5659www.fm.viamedica.pl  S H O R T  C O M M U N I C A T I O N249Population genetics of 10 short tandem repeat(STR) loci in a population sample of the ethnicgroup of Polish Tatars living in the Podlasiearea (Northeastern Poland)Witold Pepiński1, Jerzy Janica1, Maria Aleksandrowicz-Bukin2, Małgorzata Skawrońska1,Ewa Koc-Żórawska1, Anna Niemcunowicz-Janica11Department of Forensic Medicine, Medical University, Białystok, Poland2Department of Human Anatomy, Medical University, Białystok, Poland[Received 28 May 2003; Accepted 25 March 2004]Laboratories worldwide are contributing to a large and growing database fordifferent populations. This study provides a 10 STR database for a populationsample of Polish Tatars living in the area of Podlasie for the use as a highlydiscriminatory system of genetic markers in the forensic community. The geno-type frequency distributions showed no deviations from the Hardy-Weinbergequilibrium (HWE) except for D3S1358, FGA, D18S51 and D16S539, based onthe Fisher Exact Test. Significant differences between the Polish Tatars and thenative population of Podlasie were found in loci D3S1358, FGA, D2S1338,D21S11 and D19S433. The combined values of the Matching Probability and ofthe Power of Exclusion are 1 in 2.83 ¥ 10-12 and 0.998, respectively.Key words: STR, Multiplex PCR, AmpFlSTR SGM PlusAddress for correspondence: Witold Pepiński, MD, Department of Forensic Medicine, Medical University, ul. Waszyngtona 13,15–230 Białystok, Poland, tel/fax: +48 85 748 59 85, e-mail: pepinski@amb.edu.plINTRODUCTIONThe ancestors of the contemporary Polish Tatars(also known as Polish-Lithuanian Tatars) arrived inPoland in ancient times from the Golden Horde andKhanates of Kazan, Crimea, Volga and Astrakhan.They are descendants of the Nogai Ordu (Horde) towhom Grand Duke Vitautas applied for assistancein his struggle against the Teutonic Order. After thevictory at Grunwald (1410) they were invited to set-tle in Lithuania. At that time they numbered about200,000 and built around 260 mosques [3]. Thedistinctive culture of the Polish Tatars is a result ofa few hundred years of contact between Muslimsand Muslim Slavs. Living in separate closed commu-nities, they long preserved their language, faith, andcustoms. Greater assimilation with the local popula-tion only began in the 17th century. The villages ofthat time, Kruszyniany and Bohoniki, together withthe oldest mosques, still exist today. The autoch-tonous Tatars who live in Poland today are SunniMuslim descendants of those settled from 1679 bythe Polish King Jan III Sobieski. They number about2,500 and all speak Polish. The Islamic centre of thePolish Tatars is Białystok in Podlasie (NE Poland).Despite several centuries of cultural and religiousassimilation and separation from their Tatar-Turkicroots, the Polish Tatars have preserved their ethnicand religious identity [1].Short tandem repeats (STRs) represent highlypolymorphic microsatellite markers in the human250Folia Morphol., 2004, Vol. 63, No. 2genome that have tandemly repetitive sequenceelements of 2–7 bps in length, located approximatelyevery 10–15 kbs. Multiplex PCR-based STR and kitswith fluorescence detection technology have beenvalidated to produce rapid and robust amplificationof several DNA loci from biological samples [5, 7].As a result of the different frequency distributionsof the particular STR markers reported for differentpopulations, population data are collected to makea frequency assessment for each observed allele andgenotype so that the probability value describinga random genotype occurrence in a population canbe determined [5]. The aim of this study was to pro-vide a preliminary 10 STR database for a populationsample of Polish Tatars living in the area of Podlasie(NE Poland).MATERIAL AND METHODSDNA was extracted with the use of the Chelex-100and proteinase K method [9] from the buccal swabsof 120 unrelated Polish Tatars resident in Podlasie.All the persons gave their signed written consent forblood samples to be collected. The amount of DNAwas determined spectrophotometrically. The com-mercially available kit AmpFlSTR SGM Plus (Applera,USA) was used according to the manufacturer’s in-structions. DNA samples were amplified using Ge-neAmp PCR System 9700 (Applera, USA). Genotyp-ing was performed in a 310 ABI Genetic Analyzer(Applera, USA). Possible divergence from the Hardy-Weinberg equilibrium was tested using the exact test[2] based on 3200 shuffling experiments. Analyseswere performed using the Genetic Data Analysis(GDA) software [4]. A comparison of allele frequen-cy distributions was performed by means of a pair-wise population comparison test (RxC contingencytest; G. Carmody, Ottawa, Canada). The level of sig-nificance was 0.05 for all statistical tests (two-sidedprobability). For the calculations of the forensic effi-ciency parameters PowerStats software (PromegaCorp.) was used. The Matching Probability (MP) dis-plays the rate of coincidence that a random unrelat-ed person would by chance have the same DNA pro-file as that obtained from the evidence or, alterna-tively, the number of individuals that may be sur-veyed before finding the same DNA profile in a ran-domly encountered individual. The combined MP forseveral loci is the product of the individual matchingprobability at each locus on the assumption that theyare not linked. Mean Exclusion Probability, alsotermed the Power of Exclusion (PE), is the probabil-ity that a single genetic system will exclude a non-father from paternity prior to testing and is definedas the fraction of individuals with a DNA profile dif-ferent from that of a randomly selected individual ina typical paternity case.RESULTS AND DISCUSSIONThe allele frequencies observed for the 10 shorttandem repeat loci and the values of the forensicefficiency parameters determined for 120 unrelat-ed individuals from the area of Podlasie are dis-played in Table 1. The genotype frequency distri-butions showed no deviations from the Hardy-Weinberg equilibrium (HWE) except for D3S1358,FGA, D18S51 and D16S539, based on the FisherExact Test. Possible reasons for the disequilibriuminclude a possible sampling error, a populationsubstructure or inbreeding [6]. Table 1 also showsthe forensic efficiency parameters for the systemsanalysed. The calculated MP ranged from 0.117(D3S1358) to 0.042 (D2S1338 and D18S51) and thea priori PE ranged from 0.400 (D3S1358) to 0.758(D2S1338). The Combined PE calculated for the10 loci was 0.998 and the Combined MP was 1 in2.83 ¥ 10-12. Tatars living outside Tatarstan (about70%) are in some danger of assimilation, althoughin Poland they remained isolated until the 18th cen-tury. A pairwise testing for heterogeneity using thec2-test according to Carmody revealed statisticallysignificant differences between the Polish Tatar andPodlasie populations for loci D3S1358, FGA,D2S1338, D21S11 and D19S433 (p < 0.05) and sim-ilar allele distributions for VWA, TH01, D16S539,D18S51 and D8S1179 (p > 0.05) (Table 2). The 10 locistudied provide an extremely informative discrimi-natory system of genetic markers for applications inpopulation genetics and in the forensic community.REFERENCES1. Aleksandrowicz-Bukin M (2002) Grupy odmiennoś-ci kulturowej i religijnej na Podlasiu (Płn-Wsch. Pol-ska) ze szczególnym uwzględnieniem Tatarów Pol-skich w przekazach Telewizji Regionalnej. UwB,Białystok.2. Guo SW, Thompson EA (1992) Performing the exacttest of Hardy-Weinberg proportion for multiple alle-les. Biometrics, 48: 361–72.3. Kalendarz Muzułmański Tatarów w Polsce (1939)Wilno.4. Lewis PO, Zaykin D. Genetic Data Analysis: Computerprogram for the analysis of allelic data. Version 1.0(d16c). Free program distributed by the authors overthe internet from http://lewis.eeb.uconn.edu/lew-ishome/software.html251Witold Pepiński et al., Population genetics in Polish TatarsTable 1. Distribution of the observed allele frequencies and HWE exact test (P-values) for the 10 STR loci in the Polish Ta-tar population (NE Poland)Allele D3S1358 VWA FGA TH01 D16S539 D2S1338 D21S11 D18S51 D8S1179 D19S4336 – – – 0.218 – – – – – –7 – – – 0.127 – – – – – –8 – – – 0.091 0.004 – – – – –9 – – – 0.305 0.096 – – – 0.013 –9.3 – – – 0.259 – – – – – –10 – – – – 0.088 – – – 0.053 –11 – – – – 0.289 – – 0.009 0.049 –12 – – – – 0.289 – – 0.063 0.243 0.05812.2 – – – – – – – – – 0.00413 – – – – 0.184 0.005 – 0.112 0.363 0.29913.2 – – – – – – – – – 0.04514 0.049 0.062 – – 0.048 – – 0.152 0.190 0.35714.2 – – – – – – – – – 0.05415 0.332 0.164 – – – – – 0.241 0.066 0.07615.2 0.009 – – – – – – – – 0.02216 0.296 0.243 – – – 0.009 – 0.161 0.018 0.04916.2 – – – – – – – – – 0.03617 0.190 0.279 – – – 0.095 – 0.080 0.004 –18 0.124 0.181 – – – 0.050 – 0.063 – –19 – 0.071 0.040 – – 0.232 – 0.071 – –20 – – 0.076 – – 0.155 – 0.009 – –21 – – 0.179 – – 0.068 – 0.036 – –21.2 – – 0.009 – – – – – – –22 – – 0.250 – – 0.041 – 0.004 – –22.2 – – 0.009 – – – – – –23 – – 0.129 – – 0.127 – – – –23.2 – – 0.018 – – – – – – –24 – – 0.147 – – 0.155 – – – –24.2 – – 0.013 – – – – – – –25 – – 0.085 – – 0.064 – – – –26 – – 0.022 – – – – – – –27 – – 0.014 – – – 0.090 – – –28 – – – – – – 0.080 – – –29 – – – – – – 0.212 – – –30 – – 0.022 – – – 0.301 – – –30.2 – – – – – – 0.031 – – –31 – – – – – – 0.088 – – –31.2 – – – – – – 0.062 – – –32 – – – – – – 0.022 – – –32.2 – – – – – – 0.124 – – –33.2 – – – – – – 0.062 – – –34.2 – – – – – – 0.009 – – –Ho 0.681 0.779 0.875 0.727 0.702 0.882 0.779 0.804 0.708 0.777He 0.751 0.798 0.885 0.772 0.783 0.864 0.829 0.864 0.766 0.768P 0.006 0.515 0.027 0.243 0.003 0.705 0.128 0.024 0.538 0.413MP  0.117  0.073  0.050  0.093  0.089  0.042  0.053  0.042  0.092  0.093PE  0.400  0.560  0.745  0.472  0.431  0.758  0.560  0.606  0.441  0.557Ho — heterozygosity observed, He — heterozygosity expected, P — exact test probability, MP — matching probability, PE — power of exclusion252Folia Morphol., 2004, Vol. 63, No. 2Table 2. Pairwise comparison (RxC contingency table) between the Polish Tatar population and the population of Podlasie [8]Locus c2 P G PD3S1358 15.3835 0.0100 ± 0.0031 17.7761  0.0050 ±  0.0022VWA 10.1569 0.1740 ± 0.0120 12.3268 0.0960 ±  0.0093FGA 33.7700 0.0060 ± 0.0024 25.8434 0.0100 ±  0.0031TH01 7.8746 0.1660 ± 0.0118 8.3321 0.1490 ±  0.0113D16S539 11.6615 0.1130 ± 0.0100 9.3856 0.2280 ±  0.0133D2S1338 31.3029 0.0010 ± 0.0010 33.4794 0.0000 ±  0.0000D21S11 19.7074 0.0320 ± 0.0056 19.8174 0.0350 ±  0.0058D18S51 12.0162 0.5690 ± 0.0157 13.1162 0.5610 ±  0.0157D8S1179 9.1799 0.2490 ± 0.0137 9.2609 0.2690 ±  0.0140D19S433 23.2321 0.0100 ± 0.0031 26.7138 0.0020 ±  0.0014c2 — Chi square test, G — G statistics, P — probability5. Moretti TR, Baumstark AL, Defenbaugh DA, Keys KM,Brown AL, Budowle B (2001) Validation of STR typ-ing by capillary electrophoresis. J Forensic Sci, 46:661–676.6. National Research Council (1966) The Evaluation ofForensic DNA Evidence, National Academy Press, Wash-ington, DC.7. Parson W, Steinlechner M (2001) Efficient DNA da-tabase laboratory strategy for high throughput STRtyping of reference samples. Forensic Sci Int, 22:1–6.8. Pepinski W, Janica J, Skawronska M, Niemcunowicz--Janica A, Soltyszewski I (2001) Population geneticsof 15 STR loci in the population of Podlasie (NE Po-land). Forensic Sci Int, 124: 226–227.9. Wiegand P, Bajanowski T, Brinkmann B (1993) PCRtyping of debris from fingernails Int J Legal Med,106: 81–84.

Population genetics of 10 short tandem repeat (STR) loci in a population sample of the ethnic group of Polish Tatars living in the Podlasie area (Northeastern Poland)

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Population genetics of 10 short tandem repeat (STR) loci in a population sample of the ethnic group of Polish Tatars living in the Podlasie area (Northeastern Poland)

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