Mutations at Y-STR loci: implications for paternity testing and forensic analysis

Abstract 

Knowledge about mutation rates and the mutational process of Y-chromosomal short-tandem-repeat (STR) or microsatellite loci used in paternity testing and forensic analysis is crucial for the correct interpretation of resulting genetic profiles. Therefore, we recently analysed a total of 4999 male germline transmissions from father/son pairs of confirmed paternity (probability≥99.9%) at 15 Y-STR loci which are commonly applied to forensics. We identified 14 mutations. Locus specific mutation rate estimates varied between 0 and 8.58×10⁻³, and the overall average mutation rate estimate was 2.80×10⁻³ (95% CIL 1.72×10⁻³–4.27×10⁻³). In two confirmed father/son pairs mutation at two Y-STRs were observed. The probability of two mutations occurring within the same single germline transmission was estimated to be statistically not unexpected. Additional alleles caused by insertion polymorphisms have been found at a number of Y-STRs and a frequency of 0.12% was estimated for DYS19. The observed mutational features for Y-STRs have important consequences for forensic applications such as the definition of criterions for exclusions in paternity testing and the interpretation of genetic profiles in stain analysis. In order to further enrich our knowledge of Y-STR mutations we suggest the establishment of a Y-STR mutation database and ask the forensic community for data contribution.

Keywords: Paternity testing, Y chromosome, Short-tandem-repeat loci, Y-STR, Microsatellites, Mutations