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Population data for D10S1248, D14S1434, and D22S1045 miniSTRs loci from the Marches region (Central Italy)
Available online at www.sciencedirect.com
Forensic Science International: Genetics Supplement Series 1 (2008) 353–355 www.elsevier.com/locate/FSIGSS
Research article
Population data for D10S1248, D14S1434, and D22S1045 miniSTRs loci from the Marches region (Central Italy) Valerio Onofri, Ilenia Giacomini, Federica Alessandrini, Chiara Turchi, Loredana Buscemi, Adriano Tagliabracci * Institute of Legal Medicine, Universita` Politecnica delle Marche, Via Conca, 60126, Ancona, Italy Received 16 August 2007; accepted 7 October 2007
Abstract The suitability of miniSTRs in degraded DNA typing has been well demonstrated. In order to collect allele frequencies of the ‘‘NC01’’ miniplex loci, a population study was performed. D10S1248, D14S1434, and D22S1045 loci were investigated in a sample of 157 unrelated healthy individuals living in the Marches region (Central Italy). Allele frequencies were collected and forensic parameters were calculated. The population sample was also genotyped by Profiler Plus1 kit (Applied Biosystems), in order to compare forensic parameters of miniSTR loci with nine of the most used STRs. The frequency distribution showed no deviations from Hardy–Weinberg equilibrium expectations. The accumulated power of discrimination was 0.998587, and heterozygosity more than 0.7 was observed for all the three microsatellites. The results of our study confirmed the effectiveness of NC01 miniplex loci as a further tool to add in human identification for degraded specimens. # 2008 Elsevier Ireland Ltd. All rights reserved. Keywords: D10S1248; D14S1434; D22S1045; miniSTRs; Population data
1. Introduction The suitability of miniSTRs in degraded DNA typing has been well demonstrated. In order to collect allele frequencies of the ‘‘NC01’’ miniplex loci, a population study was performed in a sample of 157 males and females from the Marches region (Central Italy). 2. Materials and methods D10S1248, D14S1434, and D22S1045 loci were investigated in a sample of 157 unrelated healthy individuals living in the Marches region (Central Italy). DNA was extracted by phenol-chloroform from peripheral blood or by Chelex from buccal swabs. The triplex PCR was performed as suggested by Coble and Butler [1]. Alleles were elctrophoretically separated by a 4-capillary ABI Prism 3130 Genetic Analyzer (Applied Biosystems) using filter G5, and genotyped by comparison with a homemade allelic ladder. * Corresponding author. Tel.: +39 0715964716; fax: +39 0715964723. E-mail address: [email protected] (A. Tagliabracci). 1875-1768/$ – see front matter # 2008 Elsevier Ireland Ltd. All rights reserved. doi:10.1016/j.fsigss.2007.10.038
Genemapper panel and bin set were constructed for automatic allele calling. Allele frequencies were collected and forensic parameters were calculated using PowerStat v1.2 Software Package (Promega). The population sample was also genotyped by Profiler Plus1 kit (Applied Biosystems), in order to compare forensic informativity of miniSTR loci to nine of the most used STRs. Allele nomenclature was also assigned following the changes noted by the authors [2,3]. 3. Results and discussion The amplicons observed in this population were between 67 and 119 bp in size. The frequency distribution showed no deviations from Hardy–Weinberg equilibrium expectations. The accumulated power of discrimination was 0.998587, and observed heterozygosity was more than 0.7 for all the three microsatellites (Table 1). Allele frequencies of the Marches sample was compared to Caucasian (n = 170, [1]), Afro-American (n = 164, [1]), Chinese (n = 185, [4]), Japanese (n = 142, [5]), and Spanish samples (n = 264, [6]), as shown in Fig. 1. In order to evaluate the forensic usefulness of miniSTR loci, 69 subjects were typed with both NC01 and Profiler Plus1 kit (Applied Biosystems).
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V. Onofri et al. / Forensic Science International: Genetics Supplement Series 1 (2008) 353–355
Table 1 Forensic parameters of NC01 compared to that of Profiler Plus1, in the same sample from the Marches Marker
D10S1248 D14S1434
D22S1045 FGA
Observed heterozygosity Mean OH
0.713
0.777 0.732
0.707
0.812 0.841
D3S1358 D5S818 D7S820 D8S179 0.638
0.783
0.783 0.797
0.812
0.841
0.783 0.884
Gene diversity Mean GD
0.762
0.749 0.740
0.710
0.853 0.804
0.705
0.794
0.794 0.799
0.775
0.872
0.806 0.792
Match probability Combined PM
0.092
0.111 1.41 10
0.138
0.049 0.089
0.141
0.081
0.074 8.12 10
0.094
0.039
0.070 0.086
Power of discrimination Accumulated PD
0.908
0.889 0.862 0.9985870000000
0.951 0.911
0.859
0.919
0.926 0.906 0.9999999999188
0.961
0.930 0.914
Power of exclusion Typical paternity Index Polymorp. inform. content Hardy–Weinberg p-values
0.449 1.744 0.724 0.431
0.557 2.243 0.709 0.700
0.610 2.577 0.836 0.646
0.339 1.380 0.656 0.049
0.567 2.300 0.763 0.410
0.555 2.233 0.769 0.725
0.676 3.136 0.859 0.395
3
0.439 1.707 0.662 0.255
0.676 3.136 0.775 0.007
D13S317 D18S51 D21S11
VWA
11
0.621 2.654 0.747 0.658
Fig. 1. Allele frequencies of the Marches sample compared to other published sampling.
0.567 2.300 0,781 0.241
0.763 4.313 0.762 0.433
V. Onofri et al. / Forensic Science International: Genetics Supplement Series 1 (2008) 353–355
The power of discrimination, the heterozygosity and the other forensic parameters observed for D10S1248, D14S1434, and D22S1045 are similar to that of the nine loci of Profiler Plus1 (Table 1). The results of our study confirmed the effectiveness of NC01 miniplex loci as a further tool to add in human identification for degraded specimens. Funding source Grants from ‘‘Universita` Politecnica delle Marche’’ and ‘‘Ministero per Istruzione, Universita` e Ricerca’’. The funding sources had no involvement in the development of the paper or decisions related to the paper. Conflict of interest None.
355
References [1] M.D. Coble, J.M. Butler, Characterization of new miniSTR loci to aid anlysis of degraded DNA, J. Forensic Sci. 50 (1) (2005) 43–53. [2] T. Lederer, G. Braunschweiger, Commentary on: M.D. Coble, J.M. Butler, Characterization of new miniSTR loci to aid analysis of degraded DNA. J. Forensic Sci. 50 (2005) 43–53; J. Forensic Sci. 52 (2) (2007) 493. [3] J.M. Butler, M.D. Coble, Authors’ response, J. Forensic Sci. 52 (2) (2007) 494. [4] R.Y. Yong, L.S. Gan, M.D. Coble, E.P. Yap, Allele frequencies of six miniSTR loci of three ethnic populations in Singapore, Forensic Sci. Int. 166 (2–3) (2007) 240–243. [5] H. Asamura, R. Uchida, K. Takayanagi, M. Ota, H. Fukushima, Allele frequencies of the six miniSTR loci in a population from Japan, Int. J. Legal Med. 120 (3) (2006) 182–184. [6] P. Martin, O. Garcia, C. Albarran, P. Garcia, I. Yurrebaso, A. Alonso, Allele frequencies of six miniSTR loci (D10S1248, D14S1434, D22S1045, D4S2364, D2S441 and D1S1677) in a Spanish population, Forensic Sci. Int. 169 (2–3) (2007) 252–254.
Forensic Science International: Genetics Supplement Series 1 (2008) 353–355 www.elsevier.com/locate/FSIGSS
Research article
Population data for D10S1248, D14S1434, and D22S1045 miniSTRs loci from the Marches region (Central Italy) Valerio Onofri, Ilenia Giacomini, Federica Alessandrini, Chiara Turchi, Loredana Buscemi, Adriano Tagliabracci * Institute of Legal Medicine, Universita` Politecnica delle Marche, Via Conca, 60126, Ancona, Italy Received 16 August 2007; accepted 7 October 2007
Abstract The suitability of miniSTRs in degraded DNA typing has been well demonstrated. In order to collect allele frequencies of the ‘‘NC01’’ miniplex loci, a population study was performed. D10S1248, D14S1434, and D22S1045 loci were investigated in a sample of 157 unrelated healthy individuals living in the Marches region (Central Italy). Allele frequencies were collected and forensic parameters were calculated. The population sample was also genotyped by Profiler Plus1 kit (Applied Biosystems), in order to compare forensic parameters of miniSTR loci with nine of the most used STRs. The frequency distribution showed no deviations from Hardy–Weinberg equilibrium expectations. The accumulated power of discrimination was 0.998587, and heterozygosity more than 0.7 was observed for all the three microsatellites. The results of our study confirmed the effectiveness of NC01 miniplex loci as a further tool to add in human identification for degraded specimens. # 2008 Elsevier Ireland Ltd. All rights reserved. Keywords: D10S1248; D14S1434; D22S1045; miniSTRs; Population data
1. Introduction The suitability of miniSTRs in degraded DNA typing has been well demonstrated. In order to collect allele frequencies of the ‘‘NC01’’ miniplex loci, a population study was performed in a sample of 157 males and females from the Marches region (Central Italy). 2. Materials and methods D10S1248, D14S1434, and D22S1045 loci were investigated in a sample of 157 unrelated healthy individuals living in the Marches region (Central Italy). DNA was extracted by phenol-chloroform from peripheral blood or by Chelex from buccal swabs. The triplex PCR was performed as suggested by Coble and Butler [1]. Alleles were elctrophoretically separated by a 4-capillary ABI Prism 3130 Genetic Analyzer (Applied Biosystems) using filter G5, and genotyped by comparison with a homemade allelic ladder. * Corresponding author. Tel.: +39 0715964716; fax: +39 0715964723. E-mail address: [email protected] (A. Tagliabracci). 1875-1768/$ – see front matter # 2008 Elsevier Ireland Ltd. All rights reserved. doi:10.1016/j.fsigss.2007.10.038
Genemapper panel and bin set were constructed for automatic allele calling. Allele frequencies were collected and forensic parameters were calculated using PowerStat v1.2 Software Package (Promega). The population sample was also genotyped by Profiler Plus1 kit (Applied Biosystems), in order to compare forensic informativity of miniSTR loci to nine of the most used STRs. Allele nomenclature was also assigned following the changes noted by the authors [2,3]. 3. Results and discussion The amplicons observed in this population were between 67 and 119 bp in size. The frequency distribution showed no deviations from Hardy–Weinberg equilibrium expectations. The accumulated power of discrimination was 0.998587, and observed heterozygosity was more than 0.7 for all the three microsatellites (Table 1). Allele frequencies of the Marches sample was compared to Caucasian (n = 170, [1]), Afro-American (n = 164, [1]), Chinese (n = 185, [4]), Japanese (n = 142, [5]), and Spanish samples (n = 264, [6]), as shown in Fig. 1. In order to evaluate the forensic usefulness of miniSTR loci, 69 subjects were typed with both NC01 and Profiler Plus1 kit (Applied Biosystems).
354
V. Onofri et al. / Forensic Science International: Genetics Supplement Series 1 (2008) 353–355
Table 1 Forensic parameters of NC01 compared to that of Profiler Plus1, in the same sample from the Marches Marker
D10S1248 D14S1434
D22S1045 FGA
Observed heterozygosity Mean OH
0.713
0.777 0.732
0.707
0.812 0.841
D3S1358 D5S818 D7S820 D8S179 0.638
0.783
0.783 0.797
0.812
0.841
0.783 0.884
Gene diversity Mean GD
0.762
0.749 0.740
0.710
0.853 0.804
0.705
0.794
0.794 0.799
0.775
0.872
0.806 0.792
Match probability Combined PM
0.092
0.111 1.41 10
0.138
0.049 0.089
0.141
0.081
0.074 8.12 10
0.094
0.039
0.070 0.086
Power of discrimination Accumulated PD
0.908
0.889 0.862 0.9985870000000
0.951 0.911
0.859
0.919
0.926 0.906 0.9999999999188
0.961
0.930 0.914
Power of exclusion Typical paternity Index Polymorp. inform. content Hardy–Weinberg p-values
0.449 1.744 0.724 0.431
0.557 2.243 0.709 0.700
0.610 2.577 0.836 0.646
0.339 1.380 0.656 0.049
0.567 2.300 0.763 0.410
0.555 2.233 0.769 0.725
0.676 3.136 0.859 0.395
3
0.439 1.707 0.662 0.255
0.676 3.136 0.775 0.007
D13S317 D18S51 D21S11
VWA
11
0.621 2.654 0.747 0.658
Fig. 1. Allele frequencies of the Marches sample compared to other published sampling.
0.567 2.300 0,781 0.241
0.763 4.313 0.762 0.433
V. Onofri et al. / Forensic Science International: Genetics Supplement Series 1 (2008) 353–355
The power of discrimination, the heterozygosity and the other forensic parameters observed for D10S1248, D14S1434, and D22S1045 are similar to that of the nine loci of Profiler Plus1 (Table 1). The results of our study confirmed the effectiveness of NC01 miniplex loci as a further tool to add in human identification for degraded specimens. Funding source Grants from ‘‘Universita` Politecnica delle Marche’’ and ‘‘Ministero per Istruzione, Universita` e Ricerca’’. The funding sources had no involvement in the development of the paper or decisions related to the paper. Conflict of interest None.
355
References [1] M.D. Coble, J.M. Butler, Characterization of new miniSTR loci to aid anlysis of degraded DNA, J. Forensic Sci. 50 (1) (2005) 43–53. [2] T. Lederer, G. Braunschweiger, Commentary on: M.D. Coble, J.M. Butler, Characterization of new miniSTR loci to aid analysis of degraded DNA. J. Forensic Sci. 50 (2005) 43–53; J. Forensic Sci. 52 (2) (2007) 493. [3] J.M. Butler, M.D. Coble, Authors’ response, J. Forensic Sci. 52 (2) (2007) 494. [4] R.Y. Yong, L.S. Gan, M.D. Coble, E.P. Yap, Allele frequencies of six miniSTR loci of three ethnic populations in Singapore, Forensic Sci. Int. 166 (2–3) (2007) 240–243. [5] H. Asamura, R. Uchida, K. Takayanagi, M. Ota, H. Fukushima, Allele frequencies of the six miniSTR loci in a population from Japan, Int. J. Legal Med. 120 (3) (2006) 182–184. [6] P. Martin, O. Garcia, C. Albarran, P. Garcia, I. Yurrebaso, A. Alonso, Allele frequencies of six miniSTR loci (D10S1248, D14S1434, D22S1045, D4S2364, D2S441 and D1S1677) in a Spanish population, Forensic Sci. Int. 169 (2–3) (2007) 252–254.