- Email: [email protected]
Population genetics of six miniSTR loci (D1S1677, D2S441, D4S2364, D10S1248, D14S1434, D22S1045) in a Polish population
Legal Medicine 11 (2009) 147–148
Contents lists available at ScienceDirect
Legal Medicine journal homepage: www.elsevier.com/locate/legalmed
Announcement of Population Data
Population genetics of six miniSTR loci (D1S1677, D2S441, D4S2364, D10S1248, D14S1434, D22S1045) in a Polish population Monika Reichert a, Ryszard Pawłowski a,b,* a b
Institute of Forensic Medicine, Medical University of Gdansk, 80-204 Gdansk, De˛bowa 23, Poland Institute of Forensic Research, 31-033 Krakow, Westerplatte 9, Poland
a r t i c l e
i n f o
Article history: Received 20 August 2008 Received in revised form 14 October 2008 Accepted 14 November 2008 Available online 1 January 2009 Keywords: miniSTR NC01 NC02 Population data Poland
a b s t r a c t Allele frequency data and forensic efficiency parameters for six miniSTR loci: D1S1677, D2S441, D4S2364 (NC01), D10S1248, D14S1434, D22S1045 (NC02) were estimated from a sample of 116 unrelated individuals from Poland. No significant deviations from Hardy–Weinberg equilibrium expectations were detected. The combined power of discrimination for the six studied loci was 0.999995383. Ó 2008 Elsevier Ireland Ltd. All rights reserved.
Population: Blood and saliva samples were obtained from 116 unrelated healthy individuals living in Poland. Extraction: DNA was extracted by a standard phenol–chloroform method. PCR: PCR amplifications were performed using the primers and amplification conditions described in [1]. Typing: Amplified products were analyzed using an ABI 310 (Applied Biosystems, Foster City, CA, USA). Allele designations were made according to recommendations of the DNA Commission of the ISFG [2] with the aid of homemade allelic ladders. As a positive control DNA isolated from 9947A and K562 cell lines were used (miniSTR allele genotypes for cell lines were kindly obtained from Dr. John M. Butler). DNA sequencing: To construct own minSTRs allelic ladders some PCR products were sequenced using BigDye Terminator Cycle Sequencing Kit 1.1. (Applied Biosystems). Sequencing products were analyzed using ABI 3130 (Applied Biosystems) and SeqScape ver. 2.5 software.
* Corresponding author. Address: Institute of Forensic Medicine, Medical University of Gdansk, 80-204 Gdansk, De˛bowa 23, Poland. Tel.: +48 58 3491744; fax: +48 58 3491268. E-mail address: [email protected] (R. Pawłowski). 1344-6223/$ - see front matter Ó 2008 Elsevier Ireland Ltd. All rights reserved. doi:10.1016/j.legalmed.2008.11.002
Quality control: Proficiency testing of the GEDNAP group (since 1995) and Polish Society of Forensic Medicine and Criminology (since 1998). Results: See Table 1. Analysis of data: Statistical evaluations were carried out with the aid of HWE v. 1.1 [3] and PowerStats software packages [4]. Access of data: Available upon request to [email protected]. Other remarks: No significant deviations from Hardy–Weinberg expectations based on the exact test were found. The combined power of discrimination (PD) for the six studied loci was 0.999995383. Heterozygosities ranged from 0.6465 (D4S2364) to 0.8264 (D10S1248). The power of discrimination ranged from 0.782 (D4S2364) to 0.892 (D10S1248 and D22S1045). In conclusion, a Polish population database has been established for the six miniSTR systems studied. These systems have been shown to be useful tool for personal identification.
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M. Reichert, R. Pawłowski / Legal Medicine 11 (2009) 147–148
Table 1 Observed allele frequencies for the six miniSTR loci (D10S1248, D14S1434, D22S1045, D4S2364, D2S441, D1S1677) in a population from Poland (N = 116). Allele
D10S1248
D14S1434
D22S1045
D4S2364
D2S441
D1S1677
8 9 10 11 11.3 12 12.3 13 14 15 16 17 18 19 20 PD PIC H PE TPI PM p
– 0.004 – – – 0.033 – 0.240 0.322 0.223 0.153 0.025 – – – 0.892 0.730 0.8264 0.649 2.88 0.108 0.682
– – 0.147 0.065 – 0.052 – 0.379 0.358 – – – – – – 0.853 0.650 0.6810 0.400 1.57 0.147 0.398
– – – 0.151 – 0.034 – 0.004 0.034 0.370 0.311 0.055 0.025 0.013 0.004 0.892 0.700 0.7478 0.506 1.98 0.108 0.730
0.2500 0.5000 0.2500 – – – – – – – – – – – – 0.782 0.550 0.6465 0.350 1.41 0.218 0.710
– – 0.1896 0.3362 0.0388 0.0733 0.0086 0.0133 0.2974 0.0388 0.0043 – – – – 0.891 0.720 0.7758 0.555 2.23 0.109 0.925
– – – 0.0043 – 0.0560 – 0.2241 0.3710 0.2543 0.0732 0.0172 – – – 0.886 0.700 0.7241 0.467 1.81 0.114 0.463
PD, power of discrimination; PM, probability of match; PIC, polymorphic information content; p, Hardy–Weinberg equilibrium; PE, probability of exclusion; H, observed heterozygosity; TPI, typical paternity index.
References [1] Coble MD, Butler JM. Characterization of new miniSTR loci to aid analysis of degraded DNA. J Forensic Sci 2005;50:43–53. [2] DNA Recommendations. Report concerning further recommendations of the DNA commission of the ISFH regarding PCR-based polymorphisms in STR (short tandem repeat) system. Forensic Sci Int 1994;69:103–4. [3] Ott J. Utility programs for analysis of Genetic Linkage, Program HWE version 1.10. New York: Rockefeller University. [4] PowerStats. A computer program for the analysis of population statistics (1999). Free program distributed by the authors over the internet from:
Contents lists available at ScienceDirect
Legal Medicine journal homepage: www.elsevier.com/locate/legalmed
Announcement of Population Data
Population genetics of six miniSTR loci (D1S1677, D2S441, D4S2364, D10S1248, D14S1434, D22S1045) in a Polish population Monika Reichert a, Ryszard Pawłowski a,b,* a b
Institute of Forensic Medicine, Medical University of Gdansk, 80-204 Gdansk, De˛bowa 23, Poland Institute of Forensic Research, 31-033 Krakow, Westerplatte 9, Poland
a r t i c l e
i n f o
Article history: Received 20 August 2008 Received in revised form 14 October 2008 Accepted 14 November 2008 Available online 1 January 2009 Keywords: miniSTR NC01 NC02 Population data Poland
a b s t r a c t Allele frequency data and forensic efficiency parameters for six miniSTR loci: D1S1677, D2S441, D4S2364 (NC01), D10S1248, D14S1434, D22S1045 (NC02) were estimated from a sample of 116 unrelated individuals from Poland. No significant deviations from Hardy–Weinberg equilibrium expectations were detected. The combined power of discrimination for the six studied loci was 0.999995383. Ó 2008 Elsevier Ireland Ltd. All rights reserved.
Population: Blood and saliva samples were obtained from 116 unrelated healthy individuals living in Poland. Extraction: DNA was extracted by a standard phenol–chloroform method. PCR: PCR amplifications were performed using the primers and amplification conditions described in [1]. Typing: Amplified products were analyzed using an ABI 310 (Applied Biosystems, Foster City, CA, USA). Allele designations were made according to recommendations of the DNA Commission of the ISFG [2] with the aid of homemade allelic ladders. As a positive control DNA isolated from 9947A and K562 cell lines were used (miniSTR allele genotypes for cell lines were kindly obtained from Dr. John M. Butler). DNA sequencing: To construct own minSTRs allelic ladders some PCR products were sequenced using BigDye Terminator Cycle Sequencing Kit 1.1. (Applied Biosystems). Sequencing products were analyzed using ABI 3130 (Applied Biosystems) and SeqScape ver. 2.5 software.
* Corresponding author. Address: Institute of Forensic Medicine, Medical University of Gdansk, 80-204 Gdansk, De˛bowa 23, Poland. Tel.: +48 58 3491744; fax: +48 58 3491268. E-mail address: [email protected] (R. Pawłowski). 1344-6223/$ - see front matter Ó 2008 Elsevier Ireland Ltd. All rights reserved. doi:10.1016/j.legalmed.2008.11.002
Quality control: Proficiency testing of the GEDNAP group (since 1995) and Polish Society of Forensic Medicine and Criminology (since 1998). Results: See Table 1. Analysis of data: Statistical evaluations were carried out with the aid of HWE v. 1.1 [3] and PowerStats software packages [4]. Access of data: Available upon request to [email protected]. Other remarks: No significant deviations from Hardy–Weinberg expectations based on the exact test were found. The combined power of discrimination (PD) for the six studied loci was 0.999995383. Heterozygosities ranged from 0.6465 (D4S2364) to 0.8264 (D10S1248). The power of discrimination ranged from 0.782 (D4S2364) to 0.892 (D10S1248 and D22S1045). In conclusion, a Polish population database has been established for the six miniSTR systems studied. These systems have been shown to be useful tool for personal identification.
148
M. Reichert, R. Pawłowski / Legal Medicine 11 (2009) 147–148
Table 1 Observed allele frequencies for the six miniSTR loci (D10S1248, D14S1434, D22S1045, D4S2364, D2S441, D1S1677) in a population from Poland (N = 116). Allele
D10S1248
D14S1434
D22S1045
D4S2364
D2S441
D1S1677
8 9 10 11 11.3 12 12.3 13 14 15 16 17 18 19 20 PD PIC H PE TPI PM p
– 0.004 – – – 0.033 – 0.240 0.322 0.223 0.153 0.025 – – – 0.892 0.730 0.8264 0.649 2.88 0.108 0.682
– – 0.147 0.065 – 0.052 – 0.379 0.358 – – – – – – 0.853 0.650 0.6810 0.400 1.57 0.147 0.398
– – – 0.151 – 0.034 – 0.004 0.034 0.370 0.311 0.055 0.025 0.013 0.004 0.892 0.700 0.7478 0.506 1.98 0.108 0.730
0.2500 0.5000 0.2500 – – – – – – – – – – – – 0.782 0.550 0.6465 0.350 1.41 0.218 0.710
– – 0.1896 0.3362 0.0388 0.0733 0.0086 0.0133 0.2974 0.0388 0.0043 – – – – 0.891 0.720 0.7758 0.555 2.23 0.109 0.925
– – – 0.0043 – 0.0560 – 0.2241 0.3710 0.2543 0.0732 0.0172 – – – 0.886 0.700 0.7241 0.467 1.81 0.114 0.463
PD, power of discrimination; PM, probability of match; PIC, polymorphic information content; p, Hardy–Weinberg equilibrium; PE, probability of exclusion; H, observed heterozygosity; TPI, typical paternity index.
References [1] Coble MD, Butler JM. Characterization of new miniSTR loci to aid analysis of degraded DNA. J Forensic Sci 2005;50:43–53. [2] DNA Recommendations. Report concerning further recommendations of the DNA commission of the ISFH regarding PCR-based polymorphisms in STR (short tandem repeat) system. Forensic Sci Int 1994;69:103–4. [3] Ott J. Utility programs for analysis of Genetic Linkage, Program HWE version 1.10. New York: Rockefeller University. [4] PowerStats. A computer program for the analysis of population statistics (1999). Free program distributed by the authors over the internet from: