Evaluation of deleted region from Yp11.2 of two amelogenin negative related males

The amelogenin locus is encoded by two single copy genes located on the short arm of X (AMELX, on Xp22.1-22.3) and Y (AMELY, on Yp11.2) chromosomes. Few cases of AMELY deletion have been reported and some studies have described that AMELY dropout is due to a large deletion encompassing AMELY on Yp11.2. In this study, we describe a large deleted region on the short arm of the Y chromosome discovered during routine paternity testing in two related males. The complete absence of AMELY and DYS458 marker and the presence of SRY gene in both samples, induced to conclude that a deletion was occurred in a portion of the short arm of Y chromosome. Twenty Y-specific Short Tagged Sequences (STSs) were selected to delineate the breakpoints of deletion. Seven STS between 4.91 Mb and 7.97 Mb were completely absent. The deletion of 3.06 Mb occurred 1.88 Mb upstream and 1.18 Mb downstream of the amelogenin locus. Considering the consequences of a misidentification of a male sample, the use of Y chromosome markers and SRY gene are always crucial in sex determination in criminal investigation.