A Study on Deletion in Polymer Region of Amelogenin (Amel Y) Gene: Significant Importance in Sex Determination and Identification of Sexual Assault Perpetrator

Abstract

AbstractAccurate gender determination is crucial in many scientific disciplines, especially in prenatal diagnosis of X‐linked diseases and forensic investigations. Today, molecular techniques, especially typing for a length variation in the X–Y homologous amelogenin gene (AMEL X and AMEL Y), are used for gender assignation. This amelogenin is an integral part of most PCR multiplex kits for gender determination marker, but in 1998 there was a report of two normal males being typed as female with this marker. Subsequently, a small number of males with amelogenin deleted genes have been reported in various populations but little data are available characterizing these deletions. This review aims to explore possible relationships among the AMEL Y deleted samples and Y‐chromosome microsatellite haplotypes. Also, attempts are made to determine the frequency of males with AMEL Y deleted gene in various countries across the globe. Although some studies have shown that males with AMEL Y deleted gene are extremely rare in most populations, typing an additional gender‐determining locus should be considered in forensic investigations where the reference sample is of unknown gender.