Deletion mapping of the regions with AMELY from two Chinese males

The amelogenin (AMEL) is widely used in many multiplex PCR kits for gender determination. However, the null of amelogenin Y (AMELY) can result in the incorrect genotyping of male samples as females. In this study, we report the deletion of AMELY in two cases with a deletion frequency of 0.019% (2/10526) in our laboratory. The deletion region with AMELY was mapped by using other twelve loci, which shows the class I deletion pattern. Further, the Y chromosome short tandem repeat (Y-STR) typing shows that these two cases share the same haplotype with other two cases from previous reports. The haplogroup of the two cases was predicted as O3 haplogroup with a 100% probability. Altogether, this study will provide evidence to further demonstrate the deletion of AMELY in Chinese population.