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A case of double alleles at three Y-STR loci: forensic implications
Authors:M.?Diederiche,P.?Martín,A.?Amorim,F.?Corte-Real,L.?Gusm?o  author-information"  >  author-information__contact u-icon-before"  >  mailto:lgusmao@ipatimup.pt"   title="  lgusmao@ipatimup.pt"   itemprop="  email"   data-track="  click"   data-track-action="  Email author"   data-track-label="  "  >Email author
Affiliation:(1) Serviço de Biologia Forense, Instituto Nacional de Medicina Legal, Coimbra, Portugal;(2) Instituto Nacional de Toxicología y Ciencias Forenses, M° de Justicia, Madrid, Spain;(3) IPATIMUP, Rua Dr. Roberto Frias, s/n, 4200-465 Oporto, Portugal;(4) Faculdade de Ciências, Universidade do Porto, Oporto, Portugal;(5) Faculdade de Medicina, Universidade de Coimbra, Coimbra, Portugal
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.
Keywords:Duplication  Y-STR  AZFa region  Human identification
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