Y-STR chromosome structure variations: Incidence and implications

Abstract

In this study 1178 Y-STR haplotypes of unrelated male donors' samples were analyzed in order to detect Y-STR structure variations and their implications in forensic samples analysis. DNA was amplified with Yfiler or Yfiler Plus (Applied Biosystems). 19 structure variations (1.6%) were detected: 12 duplications, 5 deletions, 1 deletion/ duplication and 1 complex structure variation. The markers involved were mostly DYF387S1 and DYS19. In 5 samples the structure variations included several Y-STRs. In one particular case, alleles were detected in only 7 markers of the Yfiler Plus kit. These findings are not critical for kinship studies whereas are very important in forensic caseworks interpretation.