Abstract
In a genetic study of unrelated donors from Bahia (Brazil), one sample contained a 16 Y-STR haplotype with double peaks at three loci: DYS389 II, DYS437 and DYS439. The son of the subject had the same haplotype as found in the father. This profile was compared with a similar case found in a paternity case investigation in Madrid (Spain) and a match was found for the full 16 Y-STR haplotype. Because these three loci are located within the AZFa segment, these results are in accordance with duplication of the AZFa region that includes also other Y-STRs currently used in forensic investigation, for example DYS389I and DYS438. This case attracts our attention in the forensic interpretation of Y-haplotype profiles, because multiple alleles at various loci do not indicate forcibly that the sample under analysis is a mixture.
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References
Bosch E, Jobling MA (2003) Duplications of the AZFa region of the human Y chromosome are mediated by homologous recombination between HERVs and are compatible with male fertility. Hum Mol Genet 12(3):341–347
Çakir AH, Celebioglu A, Yardimci E (2004) Y-STR haplotypes in Central Anatolia region of Turkey. Forensic Sci Int 144(1):59–64
Gusmão L, Gonzalez-Neira A, Pestoni C, Brion M, Lareu MV, Carracedo A (1999) Robustness of the Y STRs DYS19, DYS389 I and II, DYS390 and DYS393: optimization of a PCR pentaplex. Forensic Sci Int 106(3):163–172
Gusmão L, González-Neira A, Alves C, Lareu M, Costa S, Amorim A, Carracedo A (2002) Chimpanzee homologous of human Y specific STRs. A comparative study and a proposal for nomenclature. Forensic Sci Int 126(2):129–136
Kayser M, Caglia A, Corach D, Fretwell N, Gehrig C, Graziosi G, Heidorn F, Herrmann S, Herzog B, Hidding M et al (1997) Evaluation of Y-chromosomal STRs: a multicenter study. Int J Leg Med 110:125–133, 141–149
Kayser M, Roewer L, Hedman M, Henke L, Henke J, Brauer S, Krüger C, Krawczak M, Nagy M, Dobosz T et al (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
Kurihara R, Yamamoto T, Uchihi R, Li SL, Yoshimoto T, Ohtaki H, Kamiyama K, Katsumata Y (2004) Mutations in 14 Y-STR loci among Japanese father–son haplotypes. Int J Leg Med 118:125–131
Sanchez-Diz P, Gusmão L, Beleza S, Benitez-Paez A, Castro A, Garcia O, Solla LP, Geada H, Martin P, Martinez-Jarreta B et al (2003) Results of the GEP-ISFG collaborative study on two Y-STRs tetraplexes: GEPY I (DYS461, GATA C4, DYS437 and DYS438) and GEPY II (DYS460, GATA A10, GATA H4 and DYS439). Forensic Sci Int 135:158–162
Schneider PM, Meuser S, Waiyawuth W, Seo Y, Rittner CV (1998) Tandem repeat structure of the duplicated Y-chromosomal STR locus DYS385 and frequency studies in the German and three Asian populations. Forensic Sci Int 97:61–70
Acknowledgements
Fundação para a Ciência e a Tecnologia, Programa Operacional Ciência, Tecnologia e Inovação (POCTI); CNPq/Brazil, Universidade Estadual de Santa Cruz and Departamento de Polícia Técnica-SSP/BA. Special thanks to the donors of the samples.
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Diederiche, M., Martín, P., Amorim, A. et al. A case of double alleles at three Y-STR loci: forensic implications. Int J Legal Med 119, 223–225 (2005). https://doi.org/10.1007/s00414-005-0526-z
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DOI: https://doi.org/10.1007/s00414-005-0526-z