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Population data for 8 X-chromosome STR loci in a population sample from Northern Italy and from the Sardinia island
Available online at www.sciencedirect.com
Forensic Science International: Genetics Supplement Series 1 (2008) 173–175 www.elsevier.com/locate/FSIGSS
Research article
Population data for 8 X-chromosome STR loci in a population sample from Northern Italy and from the Sardinia island N. Cerri a, A. Verzeletti a,*, F. Gasparini a, A. Poglio a, E. Mazzeo b, F. De Ferrari a a b
Department of Forensic Medicine, University of Brescia, Brescia, Italy Department of Forensic Medicine, University of Sassari, Sassari, Italy Received 20 August 2007; accepted 1 October 2007
Abstract To establish a database for DXS8378, HPRTB, DXS7423, DXS7132, DXS10134, DXS10074, DXS10101, DXS10135 loci in an Italian population sample from Brescia (Northern Italy) and from the Sardinia island, 131 unrelated individuals were typed. DNA was amplified in a multiplex reaction with subsequent automatic detection using capillary electrophoresis. The obtained data give a contribution to the definition of Italian population STR allele frequencies for the eight analysed loci. # 2008 Elsevier Ireland Ltd. All rights reserved. Keywords: X-chromosome STRs; Frequency data; Italy
STR loci and they have proven to provide useful tools in paternity cases with female offspring or in forensic identification cases based on the comparison with first- or second-degree relatives.
1. Introduction Short tandem repeat markers on the X-chromosome are the natural counterpart to the well-established Y-chromosome
Table 1 Allele frequencies for DXS8378, HPRTB, DXS7423, DXS7132 loci and forensic parameters in a population sample from Brescia (19 males, 58 females) and the Sardinia island (16 males, 38 females) Allele
DXS8378 Brescia
9 10 11 12 13 14 15 16 17
0.015 0.207 0.326 0.370 0.074 0.007
Hobs Hexp PD female PD male PE PIC
0.707 0.708 +/ 0.865 0.654 0.453 0.655
HPRTB Sardinia 0.369 0.348 0.282
0.605 0.060 0.663 +/ 0.777 0.648 0.367 0.590
DXS7423
Brescia
Sardinia
0.015 0.007 0.133 0.400 0.222 0.170 0.037 0.015
0.011 0.185 0.283 0.283 0.174 0.054 0.011
0.793 0.076 0.742 +/ 0.877 0.543 0.522 0.705
0.842 0.057 0.772 +/ 0.867 0.750 0.556 0.735
Brescia
0.059 0.267 0.467 0.170 0.037 0.690 0.068 0.677 +/ 0.856 0.737 0.430 0.630
DXS7132 Sardinia
Brescia
Sardinia
0.054 0.315 0.479 0.130 0.021
0.015 0.111 0.274 0.296 0.222 0.074 0.007
0.022 0.109 0.272 0.359 0.174 0.065
0.579 0.061 0.651 +/ 0.821 0.601 0.392 0.592
0.810 0.077 0.770 +/ 0.897 0.765 0.552 0.733
0.605 0.053 0.750 +/ 0.896 0.727 0.528 0.711
0.070
Hobs: observed heterozygosity; Hexp: expected heterozygosity; PD: power of discrimination; PE: power of exclusion; PIC: polymorphism information content. * Corresponding author at: Department of Forensic Medicine, University of Brescia, Piazzale Spedali Civili 1, 25123 Brescia, Italy. Tel.: +39 030 3995838; fax: +39 030 3995839. E-mail address: [email protected] (A. Verzeletti). 1875-1768/$ – see front matter # 2008 Elsevier Ireland Ltd. All rights reserved. doi:10.1016/j.fsigss.2007.10.209
174
N. Cerri et al. / Forensic Science International: Genetics Supplement Series 1 (2008) 173–175
Table 2 Allele frequencies for DXS10134, DXS10074, DXS10101, DXS10135 loci and forensic parameters in a population sample from Brescia (19 males, 58 females) and the Sardinia island (16 males, 38 females) Allele
DXS10134 Brescia
DX10074 Sardinia
7 8 9 13 14 15 16 17 18 19 19.1 20 21 21.1 22 22.1 23 23.1 24 25 25.1 26 26.2 27 27.2 28 28.2 29 29.2 30 30.2 31 31.2 32 32.2 33 33.2 34 35 36 37 38 38.3 39 39.3 40.3 41.3 42.3 43.3
0.075
0.033
0.149 0.134 0.179 0.134 0.075 0.022 0.045 0.075 0.060 0.007 0.007 0.015
0.033 0.110 0.308 0.367 0.055 0.011
Hobs Hexp PD female PD male PE PIC
0.845 0.886 +/ 0.965 0.853 0.770 0.875
DXS10101
Brescia
Sardinia
0.030 0.104 0.015 0.015 0.015 0.111 0.185 0.230 0.192 0.096
0.011 0.141 0.011 0.011 0.098 0.217 0.163 0.163 0.163
0.007
0.022
Brescia
DXS10135 Sardinia
Brescia
Sardinia
0.037 0.037 0.045 0.075
0.043 0.022 0.065 0.043 0.011 0.076 0.087
0.082 0.060 0.037 0.052 0.060 0.015 0.067 0.075
0.007 0.007 0.059 0.029 0.098 0.037 0.126 0.067 0.207 0.081 0.089 0.074 0.029 0.044 0.029 0.030
0.022
0.087 0.033 0.163 0.033 0.163 0.087 0.098 0.087 0.065 0.087 0.076 0.022
0.043 0.011 0.141
0.060
0.054 0.185 0.011 0.076
0.097
0.043
0.089
0.022
0.045
0.011
0.030
0.022
0.022
0.022
0.015
0.011
0.022 0.033 0.022 0.579 0.042 0.760 +/ 0.868 0.800 0.538 0.716
0.810 0.070 0.842 +/ 0.941 0.825 0.685 0.823
0.895 0.048 0.843 +/ 0.930 0.789 0.683 0.823
0.862 0.060 0.897 +/ 0.972 0.877 0.809 0.891
0.790 0.040 0.894 +/ 0.890 0.859 0.787 0.885
0.914 0.050 0.937 +/ 0.973 0.913 0.863 0.940
0.816 0.032 0.910 +/ 0.930 0.898 0.820 0.932
0.046
Hobs: observed heterozygosity; Hexp: expected heterozygosity; PD: power of discrimination; PE: power of exclusion; PIC: polymorphism information content.
N. Cerri et al. / Forensic Science International: Genetics Supplement Series 1 (2008) 173–175
But before a new locus can be introduced in the forensic current practice a database for the relevant population must be established to evaluate its effectiveness [1]. Because of the few population data regarding X-chromosome STR loci in Italy, 131 unrelated individuals from Northern Italy (19 males, 58 females) and from the Sardinia island (16 males, 38 females) were typed for the STR loci DXS8378, HPRTB, DXS7423, DXS7132, DXS10134, DXS10074, DXS10101, DXS10135. 2. Materials and methods Genomic DNA was extracted using Chelex-100 procedure from whole blood or buccal swabs. PCR was performed in a GeneAmp PCR System 9700 (AB) using the commercial kit Mentype Argus X-8 (Biotype AG, Dresden, Germany) according to manufacturer’s recommendations. The amplification products were loaded on the ABI Prism 310 Genetic Analyser and analysed by GeneMapperID V3.2. 3. Results and discussion Results are shown in Tables 1 and 2. The highest PIC (Polymorphism information content) value was found at the DXS10135 locus in both population samples. No microvariants previously described were found [2–4]. At the DXS7423, DXS7132, DXS10134 and DXS10101 loci the excess of observed homozygotes in the sample from the Sardinia island suggests the presence of null alleles. The allele distribution for the 8 X-chromosome loci in the population sample from the Sardinia island seems to confirm the peculiarity of this
175
population (due to historical and geographic reasons), according to other studies present in literature [5,6]. This work provides a picture of allele frequencies for 8 Xchromosome STR loci in a population sample from Northern Italy and from the Sardinia island. Conflict of interest None. References [1] B. Brinkmann, The STR approach, in: A. Carracedo, B. Brinkmann, W. Bar (Eds.), Advances in Forensic Haemogenetics 6, Springer, Berlin, Heidelberg, New York, 1996, pp. 41–51. [2] J. Edelmann, S. Hering, M. Michael, R. Lessig, D. Deichsler, G. Meier Sundhausen, L. Roewer, I. Plate, R. Szibor, 16 X chromosome STR loci frequency data from a German population, Forensic Sci. Int. 124 (2001) 215–218. [3] A. Zalan, A. Volgyi, W. Brabetz, D. Schleinitz, H. Pamjav, Hungarian population data of eight X-linked markers in four linkage groups, Forensic Sci. Int. 175 (2008) 73–78. [4] M. Aler, P. Sanchez-Diz, I. Gomes, M. Gisbert, A. Carracedo, A. Amorim, L. Gusmao, Genetic data of 10 X-STRs in a Spanish population sample, Forensic Sci. Int. 173 (2007) 193–196. [5] C. Capelli, N. Redhead, V. Romano, F. Calı`, G. Lefranc, V. Delague, A. Megarbane, A.E. Felice, V.L. Pascali, P.I. Neophytou, Z. Poulli, A. Novelletto, P. Malaspina, L. Terrenato, A. Berebbi, M. Fellous, M.G. Thomas, D.B. Goldstein, Population structure in the mediterranean basin: a Y chromosome perspective, Ann. Hum. Genet. 70 (2007) 207–225. [6] A. Piazza, N. Cappello, E. Olivetti, S. Rendine, A genetic history of Italy, Ann. Hum. Genet. 52 (1988) 203–213.
Forensic Science International: Genetics Supplement Series 1 (2008) 173–175 www.elsevier.com/locate/FSIGSS
Research article
Population data for 8 X-chromosome STR loci in a population sample from Northern Italy and from the Sardinia island N. Cerri a, A. Verzeletti a,*, F. Gasparini a, A. Poglio a, E. Mazzeo b, F. De Ferrari a a b
Department of Forensic Medicine, University of Brescia, Brescia, Italy Department of Forensic Medicine, University of Sassari, Sassari, Italy Received 20 August 2007; accepted 1 October 2007
Abstract To establish a database for DXS8378, HPRTB, DXS7423, DXS7132, DXS10134, DXS10074, DXS10101, DXS10135 loci in an Italian population sample from Brescia (Northern Italy) and from the Sardinia island, 131 unrelated individuals were typed. DNA was amplified in a multiplex reaction with subsequent automatic detection using capillary electrophoresis. The obtained data give a contribution to the definition of Italian population STR allele frequencies for the eight analysed loci. # 2008 Elsevier Ireland Ltd. All rights reserved. Keywords: X-chromosome STRs; Frequency data; Italy
STR loci and they have proven to provide useful tools in paternity cases with female offspring or in forensic identification cases based on the comparison with first- or second-degree relatives.
1. Introduction Short tandem repeat markers on the X-chromosome are the natural counterpart to the well-established Y-chromosome
Table 1 Allele frequencies for DXS8378, HPRTB, DXS7423, DXS7132 loci and forensic parameters in a population sample from Brescia (19 males, 58 females) and the Sardinia island (16 males, 38 females) Allele
DXS8378 Brescia
9 10 11 12 13 14 15 16 17
0.015 0.207 0.326 0.370 0.074 0.007
Hobs Hexp PD female PD male PE PIC
0.707 0.708 +/ 0.865 0.654 0.453 0.655
HPRTB Sardinia 0.369 0.348 0.282
0.605 0.060 0.663 +/ 0.777 0.648 0.367 0.590
DXS7423
Brescia
Sardinia
0.015 0.007 0.133 0.400 0.222 0.170 0.037 0.015
0.011 0.185 0.283 0.283 0.174 0.054 0.011
0.793 0.076 0.742 +/ 0.877 0.543 0.522 0.705
0.842 0.057 0.772 +/ 0.867 0.750 0.556 0.735
Brescia
0.059 0.267 0.467 0.170 0.037 0.690 0.068 0.677 +/ 0.856 0.737 0.430 0.630
DXS7132 Sardinia
Brescia
Sardinia
0.054 0.315 0.479 0.130 0.021
0.015 0.111 0.274 0.296 0.222 0.074 0.007
0.022 0.109 0.272 0.359 0.174 0.065
0.579 0.061 0.651 +/ 0.821 0.601 0.392 0.592
0.810 0.077 0.770 +/ 0.897 0.765 0.552 0.733
0.605 0.053 0.750 +/ 0.896 0.727 0.528 0.711
0.070
Hobs: observed heterozygosity; Hexp: expected heterozygosity; PD: power of discrimination; PE: power of exclusion; PIC: polymorphism information content. * Corresponding author at: Department of Forensic Medicine, University of Brescia, Piazzale Spedali Civili 1, 25123 Brescia, Italy. Tel.: +39 030 3995838; fax: +39 030 3995839. E-mail address: [email protected] (A. Verzeletti). 1875-1768/$ – see front matter # 2008 Elsevier Ireland Ltd. All rights reserved. doi:10.1016/j.fsigss.2007.10.209
174
N. Cerri et al. / Forensic Science International: Genetics Supplement Series 1 (2008) 173–175
Table 2 Allele frequencies for DXS10134, DXS10074, DXS10101, DXS10135 loci and forensic parameters in a population sample from Brescia (19 males, 58 females) and the Sardinia island (16 males, 38 females) Allele
DXS10134 Brescia
DX10074 Sardinia
7 8 9 13 14 15 16 17 18 19 19.1 20 21 21.1 22 22.1 23 23.1 24 25 25.1 26 26.2 27 27.2 28 28.2 29 29.2 30 30.2 31 31.2 32 32.2 33 33.2 34 35 36 37 38 38.3 39 39.3 40.3 41.3 42.3 43.3
0.075
0.033
0.149 0.134 0.179 0.134 0.075 0.022 0.045 0.075 0.060 0.007 0.007 0.015
0.033 0.110 0.308 0.367 0.055 0.011
Hobs Hexp PD female PD male PE PIC
0.845 0.886 +/ 0.965 0.853 0.770 0.875
DXS10101
Brescia
Sardinia
0.030 0.104 0.015 0.015 0.015 0.111 0.185 0.230 0.192 0.096
0.011 0.141 0.011 0.011 0.098 0.217 0.163 0.163 0.163
0.007
0.022
Brescia
DXS10135 Sardinia
Brescia
Sardinia
0.037 0.037 0.045 0.075
0.043 0.022 0.065 0.043 0.011 0.076 0.087
0.082 0.060 0.037 0.052 0.060 0.015 0.067 0.075
0.007 0.007 0.059 0.029 0.098 0.037 0.126 0.067 0.207 0.081 0.089 0.074 0.029 0.044 0.029 0.030
0.022
0.087 0.033 0.163 0.033 0.163 0.087 0.098 0.087 0.065 0.087 0.076 0.022
0.043 0.011 0.141
0.060
0.054 0.185 0.011 0.076
0.097
0.043
0.089
0.022
0.045
0.011
0.030
0.022
0.022
0.022
0.015
0.011
0.022 0.033 0.022 0.579 0.042 0.760 +/ 0.868 0.800 0.538 0.716
0.810 0.070 0.842 +/ 0.941 0.825 0.685 0.823
0.895 0.048 0.843 +/ 0.930 0.789 0.683 0.823
0.862 0.060 0.897 +/ 0.972 0.877 0.809 0.891
0.790 0.040 0.894 +/ 0.890 0.859 0.787 0.885
0.914 0.050 0.937 +/ 0.973 0.913 0.863 0.940
0.816 0.032 0.910 +/ 0.930 0.898 0.820 0.932
0.046
Hobs: observed heterozygosity; Hexp: expected heterozygosity; PD: power of discrimination; PE: power of exclusion; PIC: polymorphism information content.
N. Cerri et al. / Forensic Science International: Genetics Supplement Series 1 (2008) 173–175
But before a new locus can be introduced in the forensic current practice a database for the relevant population must be established to evaluate its effectiveness [1]. Because of the few population data regarding X-chromosome STR loci in Italy, 131 unrelated individuals from Northern Italy (19 males, 58 females) and from the Sardinia island (16 males, 38 females) were typed for the STR loci DXS8378, HPRTB, DXS7423, DXS7132, DXS10134, DXS10074, DXS10101, DXS10135. 2. Materials and methods Genomic DNA was extracted using Chelex-100 procedure from whole blood or buccal swabs. PCR was performed in a GeneAmp PCR System 9700 (AB) using the commercial kit Mentype Argus X-8 (Biotype AG, Dresden, Germany) according to manufacturer’s recommendations. The amplification products were loaded on the ABI Prism 310 Genetic Analyser and analysed by GeneMapperID V3.2. 3. Results and discussion Results are shown in Tables 1 and 2. The highest PIC (Polymorphism information content) value was found at the DXS10135 locus in both population samples. No microvariants previously described were found [2–4]. At the DXS7423, DXS7132, DXS10134 and DXS10101 loci the excess of observed homozygotes in the sample from the Sardinia island suggests the presence of null alleles. The allele distribution for the 8 X-chromosome loci in the population sample from the Sardinia island seems to confirm the peculiarity of this
175
population (due to historical and geographic reasons), according to other studies present in literature [5,6]. This work provides a picture of allele frequencies for 8 Xchromosome STR loci in a population sample from Northern Italy and from the Sardinia island. Conflict of interest None. References [1] B. Brinkmann, The STR approach, in: A. Carracedo, B. Brinkmann, W. Bar (Eds.), Advances in Forensic Haemogenetics 6, Springer, Berlin, Heidelberg, New York, 1996, pp. 41–51. [2] J. Edelmann, S. Hering, M. Michael, R. Lessig, D. Deichsler, G. Meier Sundhausen, L. Roewer, I. Plate, R. Szibor, 16 X chromosome STR loci frequency data from a German population, Forensic Sci. Int. 124 (2001) 215–218. [3] A. Zalan, A. Volgyi, W. Brabetz, D. Schleinitz, H. Pamjav, Hungarian population data of eight X-linked markers in four linkage groups, Forensic Sci. Int. 175 (2008) 73–78. [4] M. Aler, P. Sanchez-Diz, I. Gomes, M. Gisbert, A. Carracedo, A. Amorim, L. Gusmao, Genetic data of 10 X-STRs in a Spanish population sample, Forensic Sci. Int. 173 (2007) 193–196. [5] C. Capelli, N. Redhead, V. Romano, F. Calı`, G. Lefranc, V. Delague, A. Megarbane, A.E. Felice, V.L. Pascali, P.I. Neophytou, Z. Poulli, A. Novelletto, P. Malaspina, L. Terrenato, A. Berebbi, M. Fellous, M.G. Thomas, D.B. Goldstein, Population structure in the mediterranean basin: a Y chromosome perspective, Ann. Hum. Genet. 70 (2007) 207–225. [6] A. Piazza, N. Cappello, E. Olivetti, S. Rendine, A genetic history of Italy, Ann. Hum. Genet. 52 (1988) 203–213.