A case of double alleles at three Y-STR loci: forensic implications

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.