A single nucleotide substitution in the flanking region of DYS533 with low peak height

Abstract

 We previously typed Y-STRs of 1299 Japanese samples using the Yfiler Plus kit and found three cases with a low peak of DYS533. In this study, we sequenced the flanking regions of DYS533 in these three samples and found a single nucleotide substitution at the position 111 bp upstream from the DYS533 repeat region. Because our previous study revealed that the Y-chromosomes of these three samples belong to haplogroup D-M57*, the mutation of the single nucleotide is likely to have occurred on the common ancestral Y-chromosome of these samples. The single nucleotide substitution may have caused the low peak of DYS533 in the three samples.