The amelogenin locus is encoded by two single copy genes located on the short arm of X (AMELX, on Xp22.1-22.3) and Y (AMELY, on Yp11.2) chromosomes. Few cases of AMELY deletion have been reported and some studies have described that AMELY dropout is due to a large deletion encompassing AMELY on Yp11.2. In this study, we describe a large deleted region on the short arm of the Y chromosome discovered during routine paternity testing in two related males. The complete absence of AMELY and DYS458 marker and the presence of SRY gene in both samples, induced to conclude that a deletion was occurred in a portion of the short arm of Y chromosome. Twenty Y-specific Short Tagged Sequences (STSs) were selected to delineate the breakpoints of deletion. Seven STS between 4.91 Mb and 7.97 Mb were completely absent. The deletion of 3.06 Mb occurred 1.88 Mb upstream and 1.18 Mb downstream of the amelogenin locus. Considering the consequences of a misidentification of a male sample, the use of Y chromosome markers and SRY gene are always crucial in sex determination in criminal investigation.

Evaluation of deleted region from Yp11.2 of two amelogenin negative related males

TURRINA, Stefania;FILIPPINI, Giulia;DE LEO, Domenico
2009-01-01

Abstract

The amelogenin locus is encoded by two single copy genes located on the short arm of X (AMELX, on Xp22.1-22.3) and Y (AMELY, on Yp11.2) chromosomes. Few cases of AMELY deletion have been reported and some studies have described that AMELY dropout is due to a large deletion encompassing AMELY on Yp11.2. In this study, we describe a large deleted region on the short arm of the Y chromosome discovered during routine paternity testing in two related males. The complete absence of AMELY and DYS458 marker and the presence of SRY gene in both samples, induced to conclude that a deletion was occurred in a portion of the short arm of Y chromosome. Twenty Y-specific Short Tagged Sequences (STSs) were selected to delineate the breakpoints of deletion. Seven STS between 4.91 Mb and 7.97 Mb were completely absent. The deletion of 3.06 Mb occurred 1.88 Mb upstream and 1.18 Mb downstream of the amelogenin locus. Considering the consequences of a misidentification of a male sample, the use of Y chromosome markers and SRY gene are always crucial in sex determination in criminal investigation.
2009
Amelogenin gene
Sex determination
Deletion
STSs
File in questo prodotto:
File Dimensione Formato  
Evaluation of deleted region from Yp11.pdf

solo utenti autorizzati

Tipologia: Documento in Post-print
Licenza: Accesso ristretto
Dimensione 71.41 kB
Formato Adobe PDF
71.41 kB Adobe PDF   Visualizza/Apri   Richiedi una copia

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11562/339852
Citazioni
  • ???jsp.display-item.citation.pmc??? ND
  • Scopus 7
  • ???jsp.display-item.citation.isi??? ND
social impact