Original Investigation

Human Genetics

, Volume 116, Issue 5, pp 395-401

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

  • Wanda LattanziAffiliated withCattedra di Genetica Medica, Facoltà di Medicina, Policlinico
  • , Marilena C. Di GiacomoAffiliated withCattedra di Genetica Medica, Facoltà di Medicina, Policlinico
  • , Gennaro M. LenatoAffiliated withCattedra di Genetica Medica, Facoltà di Medicina, Policlinico
  • , Guglielmina ChimientiAffiliated withDipartimento di Biochimica e Biologia Molecolare, Università di Bari
  • , Gianfranco VoglinoAffiliated withLaboratorio Genetica Molecolare e Citogenetica Promea
  • , Nicoletta RestaAffiliated withCattedra di Genetica Medica, Facoltà di Medicina, Policlinico
  • , Gabriella PepeAffiliated withDipartimento di Biochimica e Biologia Molecolare, Università di Bari
  • , Ginevra GuantiAffiliated withCattedra di Genetica Medica, Facoltà di Medicina, Policlinico Email author 

Rent the article at a discount

Rent now

* Final gross prices may vary according to local VAT.

Get Access

Abstract

Sex tests based on amelogenin 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 6-bp deletion on the X chromosome to produce X/Y fragments of 106/112 or 212/218 bp, respectively. Few cases of AMELY deletion, 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 quantitative fluorescence-polymerase chain reaction and cytogenetic analysis for prenatal diagnosis. The extent of the deletion, spanning approximately 2.5 Mb, was better characterised by pulsed-field gel electrophoresis, followed by fluorescence in situ hybridization and STS marker analysis.