NDLI: Two additional reports of deletion on the short arm of the Y chromosome.

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Two additional reports of deletion on the short arm of the Y chromosome.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Turrina, Stefania Filippini, Giulia Voglino, Gianfranco De Leo, Domenico
Description	Country affiliation: Italy Author Affiliation: Turrina S ( Department of Public Health and Community Medicine, Institute of Legal Medicine, Forensic Genetic Laboratory, University of Verona, Policlinico GB Rossi, Piazzale LA Scuro, 10, 37134 Verona, Italy. stefania.turrina@univr.it)
Abstract	Deletions on the short arm of the Y chromosome involving the amelogenin Y gene (AMELY), located on Yp11.2, can be misleading for sex typing with serious consequences in forensic applications and prenatal diagnosis. In this study, we describe two AMELY null cases concerning two unrelated Italian males from Northeast Italy. PCR amplification of short tandem repeats on the Y chromosome (Y-STRs) showed a lack of AMELY and DYS458 markers. The presence of all the other markers located on the Y chromosome and of the SRY gene in both samples led us to conclude that a deletion had occurred in a portion of the short arm of the Y chromosome. Twenty-three Y-specific sequence tagged sites (STSs) were chosen to delineate the deletion's length, which was estimated to be in the range of 3.35-3.87Mb for one sample and 1.51-2.58Mb for the other. These and previous findings suggest that in all cases where potential AMELY drop out has occurred, it should be used additional specific Y chromosome markers or human DNA quantification methods that specifically quantify male DNA using target male genomic markers, which not being located within the deletion regions, allow an accurate sex identification.
File Format	HTM / HTML
ISSN	18724973
Issue Number	3
Volume Number	5
e-ISSN	18780326
Journal	Forensic Science International: Genetics
Language	English
Publisher	Elsevier
Publisher Date	2011-06-01
Publisher Place	Netherlands
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Forensic Sciences Chromosome Deletion Chromosomes, Human, Y Adult Base Sequence Dna Primers Humans Male Microsatellite Repeats Genetics Polymerase Chain Reaction Case Reports Journal Article
Content Type	Text
Resource Type	Case study Article
Subject	Genetics Pathology and Forensic Medicine

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