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

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

Content Provider	Springer Nature Link
Author	Lattanzi, Wanda Di Giacomo, Marilena C. Lenato, Gennaro M. Chimienti, Guglielmina Vogli, Gianfranco Resta, Nicoletta Pepe, Gabriella Guanti, Ginevra
Copyright Year	2005
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.
Starting Page	395
Ending Page	401
Page Count	7
File Format	PDF
ISSN	03406717
Journal	Human Genetics
Volume Number	116
Issue Number	5
e-ISSN	14321203
Language	English
Publisher	Springer-Verlag
Publisher Date	2005-02-22
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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