A large interstitial deletion encompassing the Amelogenin gene on the short arm of the Y chromosome

Amelogenin-based sex tests are part of various PCR multiplex reaction kits widely used for human gender identification and have important applications in forensic casework, prenatal diagnosis, DNA databasing and blood sample storage. The two most common sex tests based on amelogenin are represented by primer sets that delimit a 6bp deletion on the X chromosome to produce X/Y fragments of 106/112 bp or 212/218bp, respectively. Few cases of AMELY mutation, usually considered as polymorphisms, have been reported so far and a detailed characterization of the molecular alteration is still lacking. In this study we describe a large interstitial deletion of the Y short arm encompassing the AMELY locus in two unrelated individuals. The first case was identified in an oligozoospermic otherwise phenotypically normal 32 year old man during the screening for Y microdeletions performed on a sample of infertile males. The second one was found among amniotic liquid samples tested by QF-PCR and cytogenetic analysis for prenatal diagnosis. The extent of the deletion, spanning approximately 2.5 Mb, was better characterized by pulsed field gel electrophoresis (PFGE) followed by fluorescence in situ hybridization (FISH) and STS marker analysis.