Legal Medicine xxx (2014) xxx–xxx
Contents lists available at ScienceDirect
Legal Medicine journal homepage: www.elsevier.com/locate/legalmed
Announcement of Population Data
Genetic polymorphism data on 15 autosomal STR markers in a Western Romanian population sample Andrei Anghel a, Alexandra Enache c,d, Edward Seclaman a, Gheorghe Gruin d, Sorin Ursoniu b, Anda Alexa a, Mirela Antonescu a, Catalin Marian a,⇑ a
Biochemistry Department, University of Medicine and Pharmacy Victor Babes, Timisoara, Romania Department of Public Health, University of Medicine and Pharmacy Victor Babes, Timisoara, Romania Deparment of Legal Medicine, University of Medicine and Pharmacy Victor Babes, Timisoara, Romania d Institute of Legal Medicine, Timisoara, Romania b c
a r t i c l e
i n f o
Article history: Received 25 January 2014 Received in revised form 28 February 2014 Accepted 2 April 2014 Available online xxxx
a b s t r a c t The allelic frequency distribution and statistical genetic parameters of forensic relevance for 15 STR loci (D8S1179, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, Penta E, Penta D, vWA, TPOX, D18S51, D5S818 and FGA) in a population sample of 336 non-related individuals residing in the Western part of Romania are presented. Ó 2014 Elsevier Ireland Ltd. All rights reserved.
Keywords: Short tandem repeats Allelic frequency Romanian population
Population: Blood samples collected under informed consent for paternity testing from 336 unrelated individuals in the Laboratory of the Institute of Legal Medicine from Timisoara, Romania were used for this study. Subjects were self declared Romanian ethnics residing in the Western part of Romania which comprises the historical regions of Transylvania, Maramures, Crisana and Banat. Extraction: DNA extraction from whole blood was performed using the QIAamp DNA Mini Kit (Qiagen) according to the manufacturer’s instructions. PCR: Approximately 1 ng of genomic DNA was amplified for the STR loci included in the Power PlexÒ 16 System (Promega) kit, following the manufacturer’s procedures. Typing: PCR fragments were separated by capillary electrophoresis following the manufacturer’s recommendations using a 3130 Genetic Analyzer (Applied Biosystems), and specific alleles were identified using the GeneMapper ID v.3.2 (Applied Biosystems) software. Quality control: For quality control purposes, all laboratory procedures included internal control standards and the controls provided in the kits. ⇑ Corresponding author. Address: Biochemistry Department, University of Medicine and Pharmacy Victor Babes, P-ta E. Murgu 2, 300041 Timisoara, Romania. Tel.: +40 730 656 429. E-mail address: [email protected] (C. Marian).
Results: Results are presented in Tables 1 and 2 Statistical analysis of data: Allelic frequencies at each locus and other statistical parameters of forensic relevance were calculated using the Power Stats software, version 1.2 (Promega Corporation, USA) [1]. Departures from Hardy–Weinberg equilibrium (HWE) and linkage disequilibrium (LD) between all loci were estimated using Genepop version 4.2 (http://genepop.curtin.edu.au/) [2,3]. Allele frequencies from the tested population were compared with data for other neighboring populations and populations with ethnic representation in Romania by G-statistics using SPSS v13. Access of data: Data available upon request to [email protected] Other remarks: We observed no departure from HWE expectations, except for Penta D (p = 0.0132) and FGA (p = 0.0246); however these departures were no longer significant after Bonferroni correction. The forensically relevant parameters for the 15 STR loci in the investigated population suggested that they have high forensic efficiency, the combined power of discrimination and power of exclusion being 0.999999999999999999722 and 0.999999295, respectively. We also investigated pair wise LD between the 15 loci in our study and observed no LD among them, with the exception of locus D7S820 which was in LD with FGA (p = 0.0044) and D3S1358 (p < 0.0001); and locus PentaD which was in LD with D16S539 (p = 0.0328) and D21S11 (p = 0.0290), respectively (data not shown). Among these, only loci PentaD (chromosomal location 21q22.3) and D21S11 (chromosomal location 21q21.1) are located
http://dx.doi.org/10.1016/j.legalmed.2014.04.001 1344-6223/Ó 2014 Elsevier Ireland Ltd. All rights reserved.
Please cite this article in press as: Anghel A et al. Genetic polymorphism data on 15 autosomal STR markers in a Western Romanian population sample. Leg Med (2014), http://dx.doi.org/10.1016/j.legalmed.2014.04.001
2
A. Anghel et al. / Legal Medicine xxx (2014) xxx–xxx
Table 1 Allelic frequencies and statistical parameters of the 15 autosomal STR loci in the Western Romanian population (N = 336). Alleles 5 6 7 8 9 9.3 10 11 12 13 14 15 16 17 18 19 20 21 21.2 22 22.2 23 23.2 24 24.2 25 25.2 26 26.2 27 28 29 29.2 30 30.2 31 31.2 32 32.2 33 33.2 34.1 34.2 MP PD PIC PE PI Ho He p
D8S1179
D21S11
0.0015 0.0179 0.0060 0.0759 0.0580 0.1592 0.3095 0.2321 0.1190 0.0149 0.0060
D7S820
CSF1PO
0.0015 0.0179 0.1711 0.1324
0.0045 0.0342
0.2961 0.2366 0.1116 0.0313 0.0015
0.2961 0.3065 0.3006 0.0491 0.0089
D3S1358
TH01 0.0015 0.2440 0.1482 0.1138 0.1737 0.3144 0.0045
0.0015 0.0030 0.0967 0.2768 0.2589 0.1935 0.1652 0.0045
D13S317
D16S539
Penta E
Penta D
0.1310 0.0878
0.0134 0.1250
0.0506 0.0015 0.1265 0.0149 0.0104
0.0030 0.0015 0.0074 0.2188
0.0833 0.3170 0.2396 0.1012 0.0402
0.0699 0.2723 0.3259 0.1607 0.0313 0.0015
0.1131 0.0982 0.2098 0.1161 0.0610 0.0268 0.0640 0.0506 0.0357 0.0089 0.0060 0.0030
0.1280 0.1815 0.1875 0.1801 0.0655 0.0193 0.0045 0.0030
vWA
TPOX
0.0015 0.5685 0.1190 0.0655 0.2113 0.0327 0.0015 0.0908 0.1071 0.2173 0.2961 0.2039 0.0699 0.0149
0.0030
D18S51
D5S818
0.0015
0.0045 0.0030 0.0387
0.0074 0.0089 0.1205 0.1607 0.1815 0.1369 0.1354 0.0938 0.0714 0.0461 0.0208 0.0089
FGA
0.0714 0.3021 0.3914 0.1741 0.0134 0.0015 0.0015 0.0193 0.0818 0.1131 0.1830 0.0030 0.1563 0.0089 0.1577 0.0045 0.1295
0.0030 0.0030
0.0015 0.0848 0.0045 0.0342 0.0015 0.0119 0.0030 0.0015
0.0030
0.0671 0.9329 0.7744 0.5837 2.4000 0.2083 0.7917 0.7635
0.0164 0.1667 0.2009 0.0045 0.2009 0.0536 0.0610 0.1101 0.0119 0.1190 0.0030 0.0446 0.0015 0.0015 0.0371 0.9629 0.8399 0.6623 3.0000 0.1667 0.8333 0.1310
0.0724 0.9276 0.7662 0.5782 2.3662 0.2113 0.7887 0.6995
0.1330 0.8670 0.6730 0.5098 2.0000 0.2500 0.7500 0.5589
0.0838 0.9162 0.7474 0.5200 2.0488 0.2440 0.7560 0.1789
0.0876 0.9124 0.7415 0.5331 2.1139 0.2365 0.7635 0.3346
0.0684 0.9316 0.7718 0.6112 2.5846 0.1935 0.8065 0.9657
0.0925 0.9075 0.7379 0.5837 2.4000 0.2083 0.7917 0.7435
0.0236 0.9764 0.8790 0.7809 4.6667 0.1071 0.8929 0.7619
0.0548 0.9452 0.8077 0.6739 3.1111 0.1607 0.8393 0.0132
0.0747 0.9253 0.7701 0.6394 2.8000 0.1786 0.8214 0.5063
0.1917 0.8083 0.5693 0.2646 1.1831 0.4226 0.5774 0.4275
0.0322 0.9678 0.8595 0.7567 4.2000 0.1190 0.8810 0.4429
0.1267 0.8733 0.6719 0.4182 1.6311 0.3065 0.6935 0.6928
0.0330 0.9670 0.8584 0.7507 4.0976 0.1220 0.8780 0.0246
MP, matching probability; PD, power of discrimination; PIC, polymorphic information content; PE, power of exclusion; PI, typical paternity index; Ho, observed homozygotes; He, observed heterozygotes; p HWE, p value.
on the same chromosome (http://www.cstl.nist.gov/biotech/strbase/) [4]; further studies being needed in order to establish whether these two loci should be included in the same panel. Table 2 presents the allelic frequency comparisons with other populations from nearby geographic areas and populations with ethnic representation in Romania for which published data is available such as Hungarians [5,6], Germans [7], Serbians [8], Turks [9], Russians [10], Greeks [11], Italians [12] and Spaniards [13]. In addition, we compared our allele frequencies with previously published data on population samples from the historical regions of Romania such as Moldavia [14], Walachia [15], Transylvania [16,17], and Dobruja [18]. Historically, the region called Transylvania was located in central Romania, west of the Carpathian range of mountains and bordering other historical regions such as Maramures to the north, Crisana to the west and
Banat to the south-west. However, these regions are now included in Romania and most often they are assimilated into Transylvania when taking into account regions within Romania. In this respect, present day Transylvania borders the historical regions of Moldavia to the east, and Walachia to the south, both part of modern Romania, and the countries of Ukraine to the north, Hungary to the west, and Serbia to the south-west. In order to avoid confusion with historical regions of Romania, we called the region Western Romania in this paper. This region has a rich history, being ruled by various countries in the past including the Austro-Hungarian and Ottoman Empires, and being in the way of several great waves of population migrations. Therefore, its population structure is represented by a majority of Romanians and several other ethnic groups including Hungarians, Germans, Serbs, Roma (Gypsies), Ukrainians, Bulgarians, Turks, Czechs and Slovaks, and others.
Please cite this article in press as: Anghel A et al. Genetic polymorphism data on 15 autosomal STR markers in a Western Romanian population sample. Leg Med (2014), http://dx.doi.org/10.1016/j.legalmed.2014.04.001
3
A. Anghel et al. / Legal Medicine xxx (2014) xxx–xxx Table 2 Allele frequency comparisons between the Western Romanian population and other populations. Populations
D8S1179
Hungary 0.125 Germany 0.858 Serbia 0.570 Turkey 0.000 Russia 0.020 Greece 0.009 Italy 0.000 Spain 0.006 Populations from Romania Moldavia 0.034 Walachia 0.000 Transylvania 0.000 Hungarian 0.941 Szekler 0.684 Dobruja 0.005
D21S11
D7S820
CSF1PO
D3S1358
TH01
D13S317
D16S539
Penta E
Penta D
vWA
TPOX
D18S51
D5S818
FGA
0.423 0.105 0.030 0.000 0.000 0.026 0.024 0.366
0.131 0.132 0.013 na 0.798 0.209 0.581 0.000
0.641 0.175 0.728 na 0.039 0.140 0.015 0.099
0.384 0.185 0.150 0.014 0.153 0.033 0.441 0.233
0.489 0.364 0.231 0.000 0.549 0.001 0.000 0.026
0.222 0.002 0.168 na 0.005 0.087 0.193 0.019
0.883 na 0.617 0.159 0.008 0.235 0.007 0.001
0.006 na na na na na 0.000 na
0.048 na na na na na 0.002 na
0.299 0.051 0.093 0.387 0.322 0.747 0.540 0.462
0.059 0.690 0.009 na 0.617 0.652 0.374 0.559
0.102 0.029 0.212 0.232 0.007 0.920 0.654 0.015
0.701 0.770 0.794 na 0.264 0.139 0.582 0.055
0.059 0.163 0.116 0.003 0.000 0.471 0.026 0.000
0.357 0.000 0.000 0.349 0.000 0.000
0.152 0.021 0.006 0.718 0.207 0.044
0.352 0.727 0.202 0.980 0.024 0.460
0.370 0.049 0.248 0.070 0.162 0.782
0.387 0.045 0.095 0.832 0.548 0.022
0.003 0.000 0.001 0.049 0.039 0.001
0.934 0.007 0.357 0.623 0.425 0.274
na na na na na na
na na na na na na
0.319 0.003 0.020 0.215 0.287 0.355
0.006 0.000 0.001 0.036 0.039 0.001
0.022 0.013 0.232 0.433 0.039 0.142
0.350 0.445 0.122 0.667 0.322 0.296
0.015 0.085 0.000 0.073 0.012 0.031
G-test p values; na – data not available.
We observed significant differences at p < 0.0033 (after Bonferroni correction) between the investigated population and each of the other compared populations except for Serbians, Hungarians and Romanians form the historical region of Moldavia within Romania. Western Romanians had significantly different allelic frequencies compared to: Germans and Greeks for one locus; Russians at two loci, Turks and Spaniards at three loci; and Italians at four loci. There were no loci with significantly different allelic frequencies between Western Romanians and Hungarians from Hungary or Hungarians ethnics from Romania; however, when compared to Szekler Hungarian ethnics from Romania, Western Romanians presented different allelic differences only at D21S11. Surprisingly, there were loci with different allelic frequencies between Western Romanians and other Romanian populations: five loci were different when compared to a population sample from Transylvania; four loci were different when compared to the Walachian population; and three loci were different when compared to Dobrujans. These differences between the investigated population sample and other Romanian population samples from historical regions of Romania could be due to various population stratification or study design differences. Herein we selected to study only self declared Romanian ethnics, whereas the other studies did not mention the ethnicity of their study sample. Conversely, the population from Western Romania is highly ethnically mixed with numerous families including individuals with different ethnicity, and therefore self declared ethnicity might not be reliable. Further studies are clearly needed in order to elucidate allelic frequency differences between the various ethnic groups that make up the population of Romania. In summary, this study provides additional information regarding the population genetic parameters of the 15 autosomal STR loci investigated. Moreover, this is the first report of this kind in the Romanian population for the two pentanucleotidic loci PentaD and PentaE, these proving to be valuable loci for forensic investigation purposes since they constantly presented the highest value of forensically relevant statistical parameters such as power of discrimination, power of exclusion and typical paternity index.
References [1] Power Stats V12.xls software. Free program distributed by Promega Corporation – USA. Personal Communication. [2] Raymond M, Rousset F. GENEPOP (version 1.2): population genetics software for exact tests and ecumenicism. J Heredity 1995;86:248–9. [3] Rousset F. Genepop’007: a complete reimplementation of the Genepop software for Windows and Linux. Mol Ecol Resour 2008;8:103–6. [4] Ruitberg CM, Reeder DJ, Butler JM. STRBase: a short tandem repeat DNA database for the human identity testing community. Nucleic Acids Res 2001;29(1):320–2. [5] Rak SÁ, Zalán A, Szabados G, Pamjav H. Population genetic data on 15 STR loci in the Hungarian population. Forensic Sci Int Genet 2011;5(5):543–4. [6] Egyed B, Füredi S, Angyal M, Balogh I, Kalmar L, Padar Z. Analysis of the population heterogeneity in Hungary using fifteen forensically informative STR markers. Forensic Sci Int 2006;158(2–3):244–9. [7] Anslinger K, Rolf B, Keil W. Evaluation and application of the AmpF/STR profiler plus PCR amplification kit in a Bavarian population sample. Int J Legal Med 2001;114(4–5):278–80. [8] Novkovic´ T, Panic´ B, Banjac A, Dekic´ TK, Tomisic´-Kosic´ I, Vucetic´-Dragovic´ A, et al. Genetic polymorphisms of 15 AmpFlSTR Identifiler loci in a Serbian population. Forensic Sci Int Genet 2010;4(5):e149–50. [9] Poetsch M, von Wurmb-Schwark N. Allele frequencies for the 16 short tandem repeats of the Powerplex ESX17 kit in a population from Turkey. Int J Legal Med 2013;127(3):591–2. [10] Stepanov VA, Melnikov AV, Lash-Zavada AY, et al. Genetic variability of 15 autosomal STR loci in Russian populations. Leg Med (Tokyo) 2010;12(5):256–8. [11] Kovatsi L, Parsons TJ, Just RS, Irwin JA. Genetic variation for 15 autosomal STR loci (PowerPlex 16) in a population sample from northern Greece. Forensic Sci Int 2006;159(1):61–3. [12] Brisighelli F, Capelli C, Boschi I, Garagnani P, Lareu MV, Pascali VL, et al. Allele frequencies of fifteen STRs in a representative sample of the Italian population. Forensic Sci Int Genet 2009;3(2):e29–30. [13] Camacho MV, Benito C, Figueiras AM. Allelic frequencies of the 15 STR loci included in the AmpFlSTR Identifiler PCR Amplification Kit in an autochthonous sample from Spain. Forensic Sci Int 2007;173(2–3):241–5. [14] Stanciu F, Popescu OR, Stoian IM. Allele frequencies of 15 STR loci in Moldavia region (NE Romania). Forensic Sci Int Genet 2009;4(1):e39–40. [15] Stanciu F, Stoian IM, Popescu OR. Population data for 15 short tandem repeat loci from Wallachia Region, South Romania. Croat Med J 2009;50(3):321–5. [16] Stanciu F, Stoian IM, Popescu OR. Comprehensive STR data for the AmpFlSTR Identifiler from Transylvania (NW Romania). Leg Med (Tokyo) 2009;11(1):48–50. [17] Demeter SJ, Kelemen B, Székely G, Popescu O. Genetic variation at 15 polymorphic, autosomal, short tandem repeat loci of two Hungarian populations in Transylvania,Romania. Croat Med J 2010;51(6):515–23. [18] Stanciu F, Popescu OR, Stoian IM. STR data for the AmpFlSTR Identifiler from Dobruja region (SE Romania). Forensic Sci Int Genet 2009;3(2):146–7.
Please cite this article in press as: Anghel A et al. Genetic polymorphism data on 15 autosomal STR markers in a Western Romanian population sample. Leg Med (2014), http://dx.doi.org/10.1016/j.legalmed.2014.04.001
Contents lists available at ScienceDirect
Legal Medicine journal homepage: www.elsevier.com/locate/legalmed
Announcement of Population Data
Genetic polymorphism data on 15 autosomal STR markers in a Western Romanian population sample Andrei Anghel a, Alexandra Enache c,d, Edward Seclaman a, Gheorghe Gruin d, Sorin Ursoniu b, Anda Alexa a, Mirela Antonescu a, Catalin Marian a,⇑ a
Biochemistry Department, University of Medicine and Pharmacy Victor Babes, Timisoara, Romania Department of Public Health, University of Medicine and Pharmacy Victor Babes, Timisoara, Romania Deparment of Legal Medicine, University of Medicine and Pharmacy Victor Babes, Timisoara, Romania d Institute of Legal Medicine, Timisoara, Romania b c
a r t i c l e
i n f o
Article history: Received 25 January 2014 Received in revised form 28 February 2014 Accepted 2 April 2014 Available online xxxx
a b s t r a c t The allelic frequency distribution and statistical genetic parameters of forensic relevance for 15 STR loci (D8S1179, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, Penta E, Penta D, vWA, TPOX, D18S51, D5S818 and FGA) in a population sample of 336 non-related individuals residing in the Western part of Romania are presented. Ó 2014 Elsevier Ireland Ltd. All rights reserved.
Keywords: Short tandem repeats Allelic frequency Romanian population
Population: Blood samples collected under informed consent for paternity testing from 336 unrelated individuals in the Laboratory of the Institute of Legal Medicine from Timisoara, Romania were used for this study. Subjects were self declared Romanian ethnics residing in the Western part of Romania which comprises the historical regions of Transylvania, Maramures, Crisana and Banat. Extraction: DNA extraction from whole blood was performed using the QIAamp DNA Mini Kit (Qiagen) according to the manufacturer’s instructions. PCR: Approximately 1 ng of genomic DNA was amplified for the STR loci included in the Power PlexÒ 16 System (Promega) kit, following the manufacturer’s procedures. Typing: PCR fragments were separated by capillary electrophoresis following the manufacturer’s recommendations using a 3130 Genetic Analyzer (Applied Biosystems), and specific alleles were identified using the GeneMapper ID v.3.2 (Applied Biosystems) software. Quality control: For quality control purposes, all laboratory procedures included internal control standards and the controls provided in the kits. ⇑ Corresponding author. Address: Biochemistry Department, University of Medicine and Pharmacy Victor Babes, P-ta E. Murgu 2, 300041 Timisoara, Romania. Tel.: +40 730 656 429. E-mail address: [email protected] (C. Marian).
Results: Results are presented in Tables 1 and 2 Statistical analysis of data: Allelic frequencies at each locus and other statistical parameters of forensic relevance were calculated using the Power Stats software, version 1.2 (Promega Corporation, USA) [1]. Departures from Hardy–Weinberg equilibrium (HWE) and linkage disequilibrium (LD) between all loci were estimated using Genepop version 4.2 (http://genepop.curtin.edu.au/) [2,3]. Allele frequencies from the tested population were compared with data for other neighboring populations and populations with ethnic representation in Romania by G-statistics using SPSS v13. Access of data: Data available upon request to [email protected] Other remarks: We observed no departure from HWE expectations, except for Penta D (p = 0.0132) and FGA (p = 0.0246); however these departures were no longer significant after Bonferroni correction. The forensically relevant parameters for the 15 STR loci in the investigated population suggested that they have high forensic efficiency, the combined power of discrimination and power of exclusion being 0.999999999999999999722 and 0.999999295, respectively. We also investigated pair wise LD between the 15 loci in our study and observed no LD among them, with the exception of locus D7S820 which was in LD with FGA (p = 0.0044) and D3S1358 (p < 0.0001); and locus PentaD which was in LD with D16S539 (p = 0.0328) and D21S11 (p = 0.0290), respectively (data not shown). Among these, only loci PentaD (chromosomal location 21q22.3) and D21S11 (chromosomal location 21q21.1) are located
http://dx.doi.org/10.1016/j.legalmed.2014.04.001 1344-6223/Ó 2014 Elsevier Ireland Ltd. All rights reserved.
Please cite this article in press as: Anghel A et al. Genetic polymorphism data on 15 autosomal STR markers in a Western Romanian population sample. Leg Med (2014), http://dx.doi.org/10.1016/j.legalmed.2014.04.001
2
A. Anghel et al. / Legal Medicine xxx (2014) xxx–xxx
Table 1 Allelic frequencies and statistical parameters of the 15 autosomal STR loci in the Western Romanian population (N = 336). Alleles 5 6 7 8 9 9.3 10 11 12 13 14 15 16 17 18 19 20 21 21.2 22 22.2 23 23.2 24 24.2 25 25.2 26 26.2 27 28 29 29.2 30 30.2 31 31.2 32 32.2 33 33.2 34.1 34.2 MP PD PIC PE PI Ho He p
D8S1179
D21S11
0.0015 0.0179 0.0060 0.0759 0.0580 0.1592 0.3095 0.2321 0.1190 0.0149 0.0060
D7S820
CSF1PO
0.0015 0.0179 0.1711 0.1324
0.0045 0.0342
0.2961 0.2366 0.1116 0.0313 0.0015
0.2961 0.3065 0.3006 0.0491 0.0089
D3S1358
TH01 0.0015 0.2440 0.1482 0.1138 0.1737 0.3144 0.0045
0.0015 0.0030 0.0967 0.2768 0.2589 0.1935 0.1652 0.0045
D13S317
D16S539
Penta E
Penta D
0.1310 0.0878
0.0134 0.1250
0.0506 0.0015 0.1265 0.0149 0.0104
0.0030 0.0015 0.0074 0.2188
0.0833 0.3170 0.2396 0.1012 0.0402
0.0699 0.2723 0.3259 0.1607 0.0313 0.0015
0.1131 0.0982 0.2098 0.1161 0.0610 0.0268 0.0640 0.0506 0.0357 0.0089 0.0060 0.0030
0.1280 0.1815 0.1875 0.1801 0.0655 0.0193 0.0045 0.0030
vWA
TPOX
0.0015 0.5685 0.1190 0.0655 0.2113 0.0327 0.0015 0.0908 0.1071 0.2173 0.2961 0.2039 0.0699 0.0149
0.0030
D18S51
D5S818
0.0015
0.0045 0.0030 0.0387
0.0074 0.0089 0.1205 0.1607 0.1815 0.1369 0.1354 0.0938 0.0714 0.0461 0.0208 0.0089
FGA
0.0714 0.3021 0.3914 0.1741 0.0134 0.0015 0.0015 0.0193 0.0818 0.1131 0.1830 0.0030 0.1563 0.0089 0.1577 0.0045 0.1295
0.0030 0.0030
0.0015 0.0848 0.0045 0.0342 0.0015 0.0119 0.0030 0.0015
0.0030
0.0671 0.9329 0.7744 0.5837 2.4000 0.2083 0.7917 0.7635
0.0164 0.1667 0.2009 0.0045 0.2009 0.0536 0.0610 0.1101 0.0119 0.1190 0.0030 0.0446 0.0015 0.0015 0.0371 0.9629 0.8399 0.6623 3.0000 0.1667 0.8333 0.1310
0.0724 0.9276 0.7662 0.5782 2.3662 0.2113 0.7887 0.6995
0.1330 0.8670 0.6730 0.5098 2.0000 0.2500 0.7500 0.5589
0.0838 0.9162 0.7474 0.5200 2.0488 0.2440 0.7560 0.1789
0.0876 0.9124 0.7415 0.5331 2.1139 0.2365 0.7635 0.3346
0.0684 0.9316 0.7718 0.6112 2.5846 0.1935 0.8065 0.9657
0.0925 0.9075 0.7379 0.5837 2.4000 0.2083 0.7917 0.7435
0.0236 0.9764 0.8790 0.7809 4.6667 0.1071 0.8929 0.7619
0.0548 0.9452 0.8077 0.6739 3.1111 0.1607 0.8393 0.0132
0.0747 0.9253 0.7701 0.6394 2.8000 0.1786 0.8214 0.5063
0.1917 0.8083 0.5693 0.2646 1.1831 0.4226 0.5774 0.4275
0.0322 0.9678 0.8595 0.7567 4.2000 0.1190 0.8810 0.4429
0.1267 0.8733 0.6719 0.4182 1.6311 0.3065 0.6935 0.6928
0.0330 0.9670 0.8584 0.7507 4.0976 0.1220 0.8780 0.0246
MP, matching probability; PD, power of discrimination; PIC, polymorphic information content; PE, power of exclusion; PI, typical paternity index; Ho, observed homozygotes; He, observed heterozygotes; p HWE, p value.
on the same chromosome (http://www.cstl.nist.gov/biotech/strbase/) [4]; further studies being needed in order to establish whether these two loci should be included in the same panel. Table 2 presents the allelic frequency comparisons with other populations from nearby geographic areas and populations with ethnic representation in Romania for which published data is available such as Hungarians [5,6], Germans [7], Serbians [8], Turks [9], Russians [10], Greeks [11], Italians [12] and Spaniards [13]. In addition, we compared our allele frequencies with previously published data on population samples from the historical regions of Romania such as Moldavia [14], Walachia [15], Transylvania [16,17], and Dobruja [18]. Historically, the region called Transylvania was located in central Romania, west of the Carpathian range of mountains and bordering other historical regions such as Maramures to the north, Crisana to the west and
Banat to the south-west. However, these regions are now included in Romania and most often they are assimilated into Transylvania when taking into account regions within Romania. In this respect, present day Transylvania borders the historical regions of Moldavia to the east, and Walachia to the south, both part of modern Romania, and the countries of Ukraine to the north, Hungary to the west, and Serbia to the south-west. In order to avoid confusion with historical regions of Romania, we called the region Western Romania in this paper. This region has a rich history, being ruled by various countries in the past including the Austro-Hungarian and Ottoman Empires, and being in the way of several great waves of population migrations. Therefore, its population structure is represented by a majority of Romanians and several other ethnic groups including Hungarians, Germans, Serbs, Roma (Gypsies), Ukrainians, Bulgarians, Turks, Czechs and Slovaks, and others.
Please cite this article in press as: Anghel A et al. Genetic polymorphism data on 15 autosomal STR markers in a Western Romanian population sample. Leg Med (2014), http://dx.doi.org/10.1016/j.legalmed.2014.04.001
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A. Anghel et al. / Legal Medicine xxx (2014) xxx–xxx Table 2 Allele frequency comparisons between the Western Romanian population and other populations. Populations
D8S1179
Hungary 0.125 Germany 0.858 Serbia 0.570 Turkey 0.000 Russia 0.020 Greece 0.009 Italy 0.000 Spain 0.006 Populations from Romania Moldavia 0.034 Walachia 0.000 Transylvania 0.000 Hungarian 0.941 Szekler 0.684 Dobruja 0.005
D21S11
D7S820
CSF1PO
D3S1358
TH01
D13S317
D16S539
Penta E
Penta D
vWA
TPOX
D18S51
D5S818
FGA
0.423 0.105 0.030 0.000 0.000 0.026 0.024 0.366
0.131 0.132 0.013 na 0.798 0.209 0.581 0.000
0.641 0.175 0.728 na 0.039 0.140 0.015 0.099
0.384 0.185 0.150 0.014 0.153 0.033 0.441 0.233
0.489 0.364 0.231 0.000 0.549 0.001 0.000 0.026
0.222 0.002 0.168 na 0.005 0.087 0.193 0.019
0.883 na 0.617 0.159 0.008 0.235 0.007 0.001
0.006 na na na na na 0.000 na
0.048 na na na na na 0.002 na
0.299 0.051 0.093 0.387 0.322 0.747 0.540 0.462
0.059 0.690 0.009 na 0.617 0.652 0.374 0.559
0.102 0.029 0.212 0.232 0.007 0.920 0.654 0.015
0.701 0.770 0.794 na 0.264 0.139 0.582 0.055
0.059 0.163 0.116 0.003 0.000 0.471 0.026 0.000
0.357 0.000 0.000 0.349 0.000 0.000
0.152 0.021 0.006 0.718 0.207 0.044
0.352 0.727 0.202 0.980 0.024 0.460
0.370 0.049 0.248 0.070 0.162 0.782
0.387 0.045 0.095 0.832 0.548 0.022
0.003 0.000 0.001 0.049 0.039 0.001
0.934 0.007 0.357 0.623 0.425 0.274
na na na na na na
na na na na na na
0.319 0.003 0.020 0.215 0.287 0.355
0.006 0.000 0.001 0.036 0.039 0.001
0.022 0.013 0.232 0.433 0.039 0.142
0.350 0.445 0.122 0.667 0.322 0.296
0.015 0.085 0.000 0.073 0.012 0.031
G-test p values; na – data not available.
We observed significant differences at p < 0.0033 (after Bonferroni correction) between the investigated population and each of the other compared populations except for Serbians, Hungarians and Romanians form the historical region of Moldavia within Romania. Western Romanians had significantly different allelic frequencies compared to: Germans and Greeks for one locus; Russians at two loci, Turks and Spaniards at three loci; and Italians at four loci. There were no loci with significantly different allelic frequencies between Western Romanians and Hungarians from Hungary or Hungarians ethnics from Romania; however, when compared to Szekler Hungarian ethnics from Romania, Western Romanians presented different allelic differences only at D21S11. Surprisingly, there were loci with different allelic frequencies between Western Romanians and other Romanian populations: five loci were different when compared to a population sample from Transylvania; four loci were different when compared to the Walachian population; and three loci were different when compared to Dobrujans. These differences between the investigated population sample and other Romanian population samples from historical regions of Romania could be due to various population stratification or study design differences. Herein we selected to study only self declared Romanian ethnics, whereas the other studies did not mention the ethnicity of their study sample. Conversely, the population from Western Romania is highly ethnically mixed with numerous families including individuals with different ethnicity, and therefore self declared ethnicity might not be reliable. Further studies are clearly needed in order to elucidate allelic frequency differences between the various ethnic groups that make up the population of Romania. In summary, this study provides additional information regarding the population genetic parameters of the 15 autosomal STR loci investigated. Moreover, this is the first report of this kind in the Romanian population for the two pentanucleotidic loci PentaD and PentaE, these proving to be valuable loci for forensic investigation purposes since they constantly presented the highest value of forensically relevant statistical parameters such as power of discrimination, power of exclusion and typical paternity index.
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Please cite this article in press as: Anghel A et al. Genetic polymorphism data on 15 autosomal STR markers in a Western Romanian population sample. Leg Med (2014), http://dx.doi.org/10.1016/j.legalmed.2014.04.001
