Deletion of amelogenin Y-locus in forensics: literature revision and description of a novel method for sex confirmation.

Today, the molecular technique routinely for sex determination in forensics is based the detection of length variations in the X–Y homologous amelogenin gene (AMELX and AMELY). In humans, the amelogenin gene is a single-copy gene located on Xp22.1–Xp22.3 and Yp11.2; the simultaneous detection of the X and Y alleles using polymerase chain reaction (PCR) can lead to gender determination. Several studies have shown that normal males may be typed as females with this test: AMELY deletions may result in no product of amplification and normal males being typed as female as a result of the test (negative male). Considering the consequences of the result obtained using only the amelogenin marker, and the related potential difficulties in interpreting the results, the gender misinterpretation may be troublesome in clinical practice and in forensic casework. In this article, beginning with a review of the incidence of gender-testing failures among different populations, and with the different strategies proposed in the literature in case of doubt regarding the presence of deleted AMEL in the DNA profile, we propose a method for the identification of samples with deleted AMEL that can be applied, as an additional assay, in case of doubt regarding PCR results of sex determination.