Abstract
The PowerPlex® Y 23 System (Promega) is a short tandem repeat (STR) multiplex that allows co-amplification of 23 gonosomal Y-STRs, combining 17 loci commonly included in commercially available kits (DYS389I, DYS448, DYS389II, DYS19, DYS391, DYS438, DYS437, DYS635, DYS390, DYS439, DYS392, DYS393, DYS458, DYS385a/b, DYS456, and Y-GATA-H4) and six new loci (DYS481, DYS549, DYS533, DYS643, DYS576, and DYS570) with the last two being rapidly mutating Y-STRs (RM Y-STRs). In order to assess the possible gain in forensic efficiency provided by the six additional markers, a population sample of 410 unrelated healthy males originating from Northeast Italy (Veneto, Trentino Alto Adige, Lombardia, and Friuli Venezia Giulia regions) was typed. The data (335 of the 410 samples) are available in the Y chromosome haplotype reference database under accession number YA003327. Overall, 410 unique haplotypes were found corresponding to a global haplotype diversity (HD) of 0.999994 with a discriminatory capacity (DC) of 100 %. Allelic microvariants, null alleles, and duplications were detected. Pairwise genetic distances (R ST) calculated among neighboring European reference populations revealed no significant differences. Furthermore, for studying Y-STR mutation rates, 90 father-son pairs, in which the fathers were already included in the full dataset, were tested. On a total of 2,070 meioses considered, eight single-step mutational events were observed, two of which within the same father-son pair and the average mutation rate was 3.38 × 10−3 per locus per generation (95 % confidence interval, 1.36 × 10−3–6.95 × 10−3).
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References
Roewer L (2009) Y chromosome STR typing in crime casework. Forensic Sci Med Pathol 5:77–84
Jobling MA, Tyler-Smith C (2003) The human Y chromosome: an evolutionary marker comes of age. Nat Rev Genet 4:598–612
Thompson JM, Ewing MM, Frank WE, Pogemiller JJ, Nolde CA, Koehler DJ, Shaffer AM, Rabbach DR, Fulmer PM, Sprecher CJ, Storts DR (2013) Developmental validation of the PowerPlex® Y23 System: a single multiplex Y-STR analysis system for casework and database samples. Forensic Sci Int Genet 7:240–250
Ballantyne KN, Keerl V, Wollstein A, Choi Y, Zuniga SB, Ralf A, Vermeulen M, de Knijff P, Kayser M (2012) A new future of forensic Y-chromosome analysis: rapidly mutating Y-STRs for differentiating male relatives and paternal lineages. Forensic Sci Int Genet 6:208–218
Kayser M, Roewer L, Hedman M, Henke L, Henke J, Brauer S, Krüger C, Krawczak M, Nagy M, Dobosz T, Szibor R, de Knijff P, Stoneking M, Sajantila A (2000) Characteristics and frequency of germline mutations at microsatellite loci from the human Y chromosome, as revealed by direct observation in father/son pairs. Am J Hum Genet 66:1580–1588
Excoffier L, Lischer HEL (2010) Arlequin suite ver 3.5: a new series of programs to perform population genetics analyses under Linux and Windows. Mol Ecol Res 10:564–567
Bosch E, Lee AC, Calafell F, Arroyo E, Henneman P, de Knijff P, Jobling MA (2002) High resolution Y chromosome typing: 19 STRs amplified in three multiplex reactions. Forensic Sci Int 125:42–51
Willuweit S, Roewer L, International Forensic Y Chromosome User Group (2007) Y chromosome haplotype reference database (YHRD): update. Forensic Sci Int Genet 1:83–87
Bonferroni CE (1936) Teoria statistica delle classi e calcolo delle probabilità. Pubbl Ist Super Sci EconCommer Firenze 8:3–62
Purps J, Siegert S, Willuweit S, Nagy M, Alves C et al (2014) A global analysis of Y-chromosomal haplotype diversity for 23 STR loci. Forensic Sci Int Genet 28(12C):12–23
Turrina S, Atzei R, De Leo D (2006) Y-chromosomal STR haplotypes in a Northeast Italian population sample using 17plex loci PCR assay. Int J Legal Med 120:56–59
Turrina S, Caratti S, De Leo D (2013) Powerplex® Y 23 System: molecular characterization of a null allele at locus DYS549. Forensic Sci Int Genet Suppl Series 4:e117–e118
Mršić G, Gršković B, Vrdoljak A, Vrdoljak A, Popović M, Valpotić I, Anđelinović Š, Stenzl V, Ehler E, Urban L, Lacković G, Underhill P, Primorac D (2012) Croatian national reference Y-STR haplotype database. Mol Biol Rep 39:7727–7741
Zupan A, Vrabec K, Glavač D (2013) The paternal perspective of the Slovenian population and its relationship with other populations. Ann Hum Biol 40:515–526
Gjertson DW, Brenner CH, Baur MP, Carracedo A, Guidet F, Luque JA, Lessig R, Mayr WR, Pascali VL, Prinz M, Schneider PM, Morling N (2007) ISFG: recommendations on biostatistics in paternity testing. Forensic Sci Int Genet 1:223–231
Poetsch M, Bajanowski T, Pfeiffer H (2012) The publication of population genetic data in the International Journal of Legal Medicine: guidelines. Int J Legal Med 126:489–490
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Turrina, S., Caratti, S., Ferrian, M. et al. Haplotype data and mutation rates for the 23 Y-STR loci of PowerPlex® Y 23 System in a Northeast Italian population sample. Int J Legal Med 129, 725–728 (2015). https://doi.org/10.1007/s00414-014-1053-6
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DOI: https://doi.org/10.1007/s00414-014-1053-6