Legal Medicine 11 (2009) 3740

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Legal Medicine
journal homepage: www.elsevier.com/locate/legalmed

Announcement of Population Data

Population data for 15 autosomal STRs loci and 12 Y chromosome STRs loci in
a population sample from the Sardinia island (Italy)
Andrea Verzeletti a,*, Nicoletta Cerri a, Fausta Gasparini a, Anna Poglio a, Elena Mazzeo b,
Francesco De Ferrari a
a
Department of Forensic Medicine, University of Brescia, Brescia, Italy
b
Department of Forensic Medicine, University of Sassari, Sassari, Italy

a r t i c l e i n f o a b s t r a c t

Article history: One hundred twenty-ve unrelated individuals (69 females and 56 males) from Sassari (Northern Sardi-
Received 7 January 2008 nia) and Orgosolo (Central Sardinia) were typed for 15 STRs loci. The 56 males were typed for 12 Y chro-
Received in revised form 16 May 2008 mosome STRs loci too. Frequency distribution is described.
Accepted 23 June 2008
2008 Elsevier Ireland Ltd. All rights reserved.
Available online 23 August 2008

Keywords:
Autosomal and Y chromosome STRs
Population data
Sardinia island

Introduction: Sardinia island is located in the middle of the
Mediterranean sea. Due to geographical and historical reasons, that
long-time isolated the island, Sardinia has been considered genet-
ically different from other regions of the Mediterranean basin and
from continental Italy in particular [13]. In consideration to the
few available data for forensic markers regarding this population,
a genetic study was performed.
Population: Fifty-six unrelated males and 69 unrelated females
from Sassari and Orgosolo (Northern and Central Sardinia).
DNA extraction: Genomic DNA was extracted using Chelex-
100 procedure from buccal swabs.
PCR amplication: DNA was amplied using the commercial
kit AmpFLSTR IdentilerTM (Applied Biosystems, Foster City, CA,
USA) and, for males DNA, PowerPlex Y System (Promega Corpo-
ration, Madison, WI, USA) according to manufacturers
recommendations.
Typing: Typing was performed by capillary electrophoresis (ABI
Prism 310 Genetic Analyzer, ABI). Allele scoring for each marker
was obtained by comparison to AmpFLSTR IdentilerTM allelic lad-
der (Applied Biosystems, Foster City, CA, USA) and to PowerPlex Y
System allelic ladder (Promega Corporation, Madison, WI, USA)
through the software GeneMapper ID V3.2 (Applied Biosystems,
Foster City, CA, USA).
* Corresponding author. Tel.: +39 030 3995838; fax: +39 030 3995839.
E-mail address: verzelet@med.unibs.it (A. Verzeletti).
Results: All data are shown in Tables 13 (Tables 46 as supple-
mentary material).
Other remarks: A high degree polymorphism was observed
among the analysed 15 autosomal loci. D21S11 and FGA loci exhib-
ited the highest polymorphism (12 alleles). Least polymorphism
was shown by CSF1P0, D3S1358 and TPOX loci (6 alleles).
D21S11, D2S1338 and vWA loci showed signicant deviations
from HardyWeinberg expectations although after the Bonferronis
correction. The reasons for the observed deviations include
inbreeding, population substructure, selection or silent alleles.
Given the structure of the population from the Sardinia island, with
contributions from both Caucasians and Africans to the genepool,
population substructure might be likely.
Regarding the Y-chromosome haplotypes, 39 different haplo-
types were found (Table 4, supplementary material). A search in
the YHRD database [4] for the most frequent 11 loci minimal hap-
lotype + SWGDAM core set found no matches for H1, H3, H4 and H5
in a population sample of 23979 haplotypes. For H2, only 16
matches were found (4 from Spain, 2 from Northern Portugal and
10 from South America).
Our data were compared to those regarding other geographi-
cally related populations of the Mediterranean basin by exact tests
as implemented in the Arlequin software [5].
Signicant differences (p < 0.05) were found between our data
and those regarding all the other considered populations (Tables
5 and 6, supplementary material) [616] both at autosomal and
at Y-chromosome loci.

1344-6223/$ - see front matter 2008 Elsevier Ireland Ltd. All rights reserved.
doi:10.1016/j.legalmed.2008.06.003
38 A. Verzeletti et al. / Legal Medicine 11 (2009) 3740

Table 1
Allele frequencies and forensic parameters at 15 autosomal STRs loci in a population sample of 125 unrelated individuals from the Sardinia island
Allele D8S1179 D21S11 D7S820 CSF1P0 D3S1358 TH01 D13S317 D16S539
5 / / / / / 0.004 / /
6 / / 0.004 / / 0.227 / /
7 / / 0.068 / / 0.175 / /
8 / / 0.086 / / 0.134 0.163 0.038
9 0.012 / 0.100 0.015 / 0.191 0.025 0.126
9.3 / / / / / 0.260 / /
10 0.096 / 0.227 0.197 / 0.008 0.041 0.130
11 0.124 / 0.227 0.368 / / 0.272 0.307
12 0.084 / 0.245 0.335 / / 0.374 0.185
13 0.300 / 0.037 0.078 / / 0.093 0.176
13.2 / / / / / / / /
14 0.147 / 0.009 0.005 0.025 / 0.033 0.034
14.2 / / / / / / /
15 0.144 / / / 0.215 / / 0.004
15.2 / / / / / / / /
16 0.060 / / / 0.275 / / /
16.2 / / / / / / / /
17 0.036 / / / 0.210 / / /
17.2 / / / / / / / /
18 / / / / 0.235 / / /
19 / / / / 0.035 / / /
20 / / / / / / / /
21 / / / / / / / /
22 / / / / / / / /
23 / / / / / / / /
24 / / / / / / / /
24.2 / 0.018 / / / / / /
25 / / / / / / / /
26 / 0.005 / / / / / /
27 / 0.022 / / / / / /
28 / 0.107 / / / / / /
29 / 0.233 / / / / / /
30 / 0.241 / / / / / /
30.2 / 0.005 / / / / / /
31 / 0.063 / / / / / /
31.2 / 0.210 / / / / / /
32.2 / 0.063 / / / / / /
33.2 / 0.014 / / / / / /
35.2 / 0.005 / / / / / /
Hobs 0.963 0.893 0.791 0.734 0.768 0.780 0.705 0.783
Hexp 0.836 0.807 0.817 0.709 0.779 0.801 0.749 0.810
p 0.473 0.002a 0.025a 0.157 0.302 0.491 0.243 0.086
PE 0.675 0.633 0.636 0.450 0.556 0.591 0.530 0.619
PIC 0.811 0.801 0.787 0.655 0.741 0.763 0.7100 0.779
Allele D2S1338 D19S433 vWA TPOX D18S51 D5S818 FGA
5 / / / / / / /
6 / / / / / / /
7 / / / 0.012 / / /
8 / / / 0.450 / 0.004 /
9 / / / 0.087 / 0.060 /
9.3 / / / / / / /
10 / / / 0.128 / 0.012 /
11 / / / 0.314 / 0.423 /
12 / 0.116 / 0.008 0.145 0.327 /
13 / 0.272 / / 0.100 0.165 /
13.2 / 0.012 / / / / /
14 / 0.312 0.100 / 0.190 0.008 /
14.2 / 0.040 / / / / /
15 / 0.172 0.184 / 0.135 / /
15.2 / 0.020 / / / / /
16 0.045 0.036 0.196 / 0.135 / /
16.2 / 0.012 / / / / /
17 0.209 0.004 0.164 / 0.110 / 0.009
17.2 / 0.004 / / / / /
18 0.073 / 0.272 / 0.070 / 0.005
19 0.068 / 0.068 / 0.020 / 0.100
20 0.191 / 0.008 / 0.020 / 0.114
21 0.023 / / / 0.070 / 0.206
22 0.041 / / / / / 0.219
23 0.136 / / / / / 0.114
24 0.095 / 0.008 / / / 0.076
24.2 / / / / / / /
25 0.114 / / / / / 0.081
26 0.005 / / / / / 0.044
 A. Verzeletti et al. / Legal Medicine 11 (2009) 3740 39

Table 1 (continued)
Allele D2S1338 D19S433 vWA TPOX D18S51 D5S818 FGA
27 / / / / / / 0.005
28 / / / / / / 0.019
29 / / / / / / /
30 / / / / / / /
30.2 / / / / / / /
31 / / / / / / /
31.2 / / / / / / /
32.2 / / / / / / /
33.2 / / / / / / /
35.2 / / / / / / /
Hobs 0.809 0.677 0.790 0.678 0.781 0.645 0.846
Hexp 0.869 0.783 0.815 0.677 0.875 0.686 0.857
p 0.000a 0.068 0.001a 0.627 0.007a 0.437 0.945
PE 0.730 0.549 0.627 0.421 0.726 0.425 0.710
PIC 0.874 0.750 0.785 0.619 0.865 0.627 0.844

Hobs observed heterozygosity; Hexp expected heterozygosity; p: p-values of the exact test for Hardy-Weinberg equilibrium (with 5% signicance level); PE power of exclusion;
PIC polymorphism information content.

Table 2
Allele frequencies and gene diversity at 12 Y-chromosome STRs in a population sample of 56 unrelated males from the Sardinia island

Allele DYS391 DYS389I DYS439 DYS389II DYS438 DYS437 DYS19 DYS392 DYS393 DYS390 Allelic class DYS385
7 / / / / / / / 0.018 / / 1010 0.018
9 0.018 / / / 0.125 / / / 0.018 / 1015 0.053
10 0.804 0.018 0.107 / 0.696 / / / / / 1112 0.018
11 0.161 / 0.518 / 0.018 / / 0.768 0.018 / 1114 0.107
12 0.018 0.084 0.321 / 0.107 / / 0.018 0.071 / 1115 0.018
13 / 0.750 0.054 / 0.054 / 0.036 0.161 0.839 / 1212 0.321
14 / 0.143 / / / 0.196 0.232 0.018 0.054 / 1213 0.321
15 / / / / / 0.768 0.090 0.018 / / 1214 0.018
16 / / / / / 0.036 0.339 / / / 1314 0.018
17 / / / / / / 0.286 / / / 1316 0.036
18 / / / / / / 0.018 / / / 1418 0.018
21 / / / / / / / / / 0.018 1516 0.018
22 / / / / / / / / / 0.071 1618 0.018
23 / / / / / / / / / 0.696 1818 0.018
24 / / / / / / / / / 0.179 / /
25 / / / / / / / / / 0.018 / /
26 / / / 0.018 / / / / / 0.018 / /
27 / / / 0.071 / / / / / / / /
28 / / / 0.446 / / / / / / / /
29 / / / 0.232 / / / / / / / /
30 / / / 0.179 / / / / / / / /
31 / / / 0.036 / / / / / / / /
33 / / / 0.018 / / / / / / / /
Total 1.000 1.000 1.000 1.000 1.000 1.000 1.000 1.000 1.000 1.000 1.000
NA 4 4 4 7 5 3 6 6 5 6 14
GD 0.327 0.410 0.614 0.708 0.485 0.370 0.740 0.383 0.287 0.477 0.775

NA, Number of allele classes; GD, gene diversity.

Table 3
List of the 10 Y chromosome STRs haplotypes not unique typed in 56 unrelated males from the Sardinia island

Haplotypes DYS391 DYS389I DYS439 DYS389II DYS438 DYS437 DYS19 DYS392 DYS393 DYS390 DYS385 N
H1 10 13 11 28 10 15 17 11 13 23 1213 4
H2 10 13 11 28 10 15 17 11 13 23 1212 4
H3 10 13 12 29 12 15 14 13 13 24 1015 3
H4 11 13 12 30 10 14 16 11 13 23 1212 3
H5 10 13 11 28 10 15 16 11 13 23 1213 3
H6 10 13 11 28 10 14 16 11 13 23 1213 2
H7 10 13 12 28 10 15 17 11 13 23 1212 2
H8 10 13 11 27 10 15 17 11 13 23 1213 2
H9 10 13 11 28 10 15 16 11 14 23 1212 2
H10 10 13 12 28 10 15 16 11 13 23 1213 2

Haplotype diversity: 96.56%; discrimination capacity: 69.64%.

These data conrm the peculiarity of the Sardinian population, Acknowledgement

due to historical and geographical reasons, according to other stud-
ies present in the literature [13]. We thank Dr. Venusia Cortellini for her technical support.
40 A. Verzeletti et al. / Legal Medicine 11 (2009) 3740
Appendix A. Supplementary data
Supplementary data associated with this article can be found, in
the online version, at doi:10.1016/j.legalmed.2008.06.003.
References
[1] Piazza A, Cappello N, Olivetti E, Rendine S. A genetic history of Italy. Ann Hum
Genet 1988;52:20313.
[2] Francalacci P, Morelli L, Underhill PA, Lillie AS, Passarino G, Useli A, et al.
Peopling of three Mediterranean islands (Corsica, Sardinia and Sicily) inferred
by Y-chromosome biallelic variability. Am J Phys Anthropol 2003;121:2709.
[3] Capelli C, Redhead N, Romano V, Cal F, Lefranc G, Delague V, et al. Population
structure in the Mediterranean basin. Ann Hum Genet 2006;70:20725.
[4] Willuweit S, Roewer L. On behalf of the International Forensic Y Chromosome
User Group (2007). Y chromosome haplotype reference database (YHRD):
update. Forensic Sci Int Genet 2007;1:837.
[5] Excofer L, Laval G, Schneider S. Arlequin ver. 3.0: an integrated software
package for population genetics data analysis. Evol Bioinform 2005;1:4750
[online].
[6] Presciuttini S, Cerri N, Turrina S, Pennato B, Al M, Asmundo A, et al. Validation
of a large Italian database of 15 STR loci. Forensic Sci Int 2006;156:2668.
[7] Camacho MV, Benito C, Figueiras AM. Allelic frequencies of the 15 STR loci
included in the AmpFlSTR Identiler PCR Amplication Kit in an
autochthonous sample from Spain. Forensic Sci Int 2007;173:2415.
[8] Coudray C, Calderon R, Guitard E, Ambrosio B, Gonzalez-Martin A, Dugoujon
JM. Allele frequencies of 15 tetrameric short tandem repeats (STRs) in
Andalusians from Huelva (Spain). Forensic Sci Int 2007;168:e214.
[9] Perez-Miranda AM, Alfonso-Sanchez MA, Kalantar A, Pena JA, de Pancorbo MM,
Herrera RJ. Allelic frequencies of 13 STR loci in autochthonous Basques from
the province of Vizcaya (Spain). Forensic Sci Int 2005;152:25962.
[10] Farfan MJ, Prieto V, Torres Y, Lopez-Soto M, Sanz P. STR data for the AmpFlSTR
Proler Plus and COler loci from the Maghreb (North Africa). Forensic Sci Int
2001;121:199200.
[11] Coudray C, Guitard E, Keyser-Tracqui C, Melhaoui M, Cherkaoui M, Larrouy G,
et al. Population genetic data of 15 tetrameric short tandem repeats (STRs) in
Berbers from Morocco. Forensic Sci Int 2007;167:816.
[12] Cherni L, Loueslati Yaacoubi B, Pereira L, Alves C, Khodjet El Kill H, Ben Ammar
El Gaaied A, et al. Data for 15 autosomal STR markers (Powerplex 16 System)
from two Tunisian populations: Kesra (Berber) and Zriba (Arab). Forensic Sci
Int 2005;147:1016.
[13] Cerri N, Verzeletti A, Bandera B, De Ferrari F. Population data for 12 Y-
chromosome STRs in a sample from Brescia (northern Italy). Forensic Sci Int
2005;152:837.
[14] Martin P, Garcia-Hirschfeld J, Garcia O, Gusmao L, Garcia P, Albarran C, et al. A
Spanish population study of 17 Y-chromosome STR loci. Forensic Sci Int
2004;139:2315.
[15] Garcia O, Martin P, Gusmao L, Albarran C, Alonso S, de la Rua C, et al. A Basque
Country autochthonous population study of 11 Y-chromosome STR loci.
Forensic Sci Int 2004;145:658.
[16] Ayadi I, Ammar-Keskes L, Rebai A. Haplotypes for 13 Y-chromosomal STR loci
in South Tunisian population (Sfax region). Forensic Sci Int 2006;164:24953.