| | Allele frequencies of fifteen STRs in a representative sample of the Italian populationReceived 12 February 2008; received in revised form 6 May 2008; accepted 7 May 2008. published online 24 June 2008. Abstract Fifteen autosomal short tandem repeat (STR) markers (D3S1358, HUMTH01, D21S11, D18S51, Penta E, D5S818, D13S317, D7S820, D16S539, CSF1PO, Penta D, HUMvWA, D8S1179, HUMTPOX and FGA) were analyzed in more than 400 unrelated individuals from nine different areas of Italy. After Bonferroni correction, no evidence of population structure was identified, either by considering each population as independent or by combining populations according to their geographic origin (North, Central and South of Italy). Forensic indexes were estimated considering all samples together. Combined power of discrimination (PD) and combined power of exclusion (PE) for the 15 tested STR loci were 0.9999999997 and 0.964708775, respectively. Low genetic distances were found between our data and those previously published for other neighboring European populations. 1. Population  A sample of 441 individuals from nine different areas of Italy were analyzed. These areas correspond to different Italian regions: Liguria, Friuli-Venezia Giulia, Marche, Latium, Calabria, Campania, Puglia and Sicily. Collection was performed by buccal swab and blood drawing after informed consent. 2. Extraction DNA extraction was performed with a salting-out method [1]. 3. PCR PowerPlex16 multiplex system (Promega Corporation, Madison, WI) was amplified according to the manufacturer's conditions [2]. 4. Typing PCR products were analyzed by capillary electrophoresis in an ABI 3100 Genetic analyzer (Applied Biosystem, Foster City, CA). Allele assignment was carried out by comparison with reference sequenced ladders [2]. 5. Analysis of data Arlequin software ver 3.11 [3] was used to calculate allele frequencies, population pairwise genetic distances (FST), AMOVA test, and also to assess departures from Hardy–Weinberg equilibrium. Statistical parameters of forensic interest (Power of Discrimination, Power of Exclusion and Matching Probability) were calculated using PowerStats v1.2 (Promega Corporation, Madison, WI) software package. 7. Results The whole genotype data set, allele frequencies and genetic distances between the studied sample and other European populations [4], [5], [6], [7], [8], [9], [10] are available as e-component. 8. Other remarks Population differentiation test showed no significant differences between populations. The AMOVA test was performed considering each population independently or grouped according to their geographic origin (North, Central and South of Italy). Results showed that most of the genetic variation occurs within individuals, underlining no evidence of population structure (data not shown). Deviation from Hardy–Weinberg equilibrium has been detected for the HUMTH01, for the D7S820, for D16S539, for the Penta D, and finally for the HUMvWA. Such deviations disappeared after Bonferroni correction. The combined power of exclusion (PE) and power of discrimination (PD) for the fifteen studied loci were 0.964708775 and 0.9999999997, respectively. The combined matching probability value was 1 in 3.33 ×108. Based on heterozygosity and polymorphic information content (PIC), FGA may be considered as the most informative loci. Locus-by-locus allelic frequencies were compared to previously published Italian and Mediterranean population data [4], [5], [6], [7], [8], [9], [10] (e-component). After applying the Bonferroni correction for multiple tests, population differentiation tests showed that Italy had significant differences with Bosnia–Herzegovina in 4 out of 13 loci (D5S818, D7S820, D16S539 and CSF1PO), with Spain in 3 out of 13 loci (D3S1358, TH01 and D16S539) and with Kosovo Albanians in 1 out of 13 loci (D18S51). A number of Italian databases are currently available [11], [12], [13], [14]. However, those are either restricted in the number of loci, focus on single populations or cover the Italian peninsula only partially. Our sample, by comprising individuals from North, Central and South of Italy, provides additional information on the genetic variation of the Italian population. This paper follows the guidelines for publication of population data requested by the journal [15]. Acknowledgements We would like to thank all the DNA donors that made this work possible. We additionally thank all the people that were involved in the sampling: Anna Barbaro, Fidelia Cascini, Donata Luiselli, Sara Partemi. We also would like to thank the AVIS Blood collection directors of Norma, Giuseppe Santucci and Sezze, Ubaldo Brandolini. The technical assistance of Amelia Rodríguez and Raquel Calvo is highly appreciated. Appendix A. Supplementary data References [1]. [1]Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988;16:1215. MEDLINE [2]. [2]Krenke BE, Tereba A, Anderson SJ, Buel E, Culhane S, Finis CJ, et al. Validation of a 16-locus fluorescent multiplex system. J. For. Sci. 2002;47:773–785. [3]. [3]Excoffier L, Laval G, Schneider S. Arlequin ver. 3.0: an integrated software package for population genetics data analysis. Evol. Bioinform. (Online). 2005;1:47–50. [4]. [4]P. Sánchez-Diz, P. G. Menounos, A. Carracedo, I. Skitsa, 16 STR data of a Greek population, Forensic Sci Int: Genetics doi:10.1016/j.fsigen.2008.01.002 http://dx.doi.org/10.1016/j.fsigen.2008.01.002. [5]. [5]Presciuttini S, Cerri N, Turrina S, Pennato B, Alù M, Asmundo A, et al. Validation of a large Italian Database of 15 STR loci. For. Sci. Int. 2006;156:266–268. [6]. [6]Kubat M, Skavić J, Behluli I, Nuraj B, Bekteshi T, Behluli M, et al. Population genetics of the 15 AmpF lSTR Identifiler loci in Kosovo Albanians. Int. J. Legal Med. 2004;118:115–118. MEDLINE |
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PII: S1872-4973(08)00080-X doi:10.1016/j.fsigen.2008.05.002 © 2008 Elsevier Ireland Ltd. All rights reserved. | |
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