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A large interstitial deletion encompassing the amelogenin gene on the short arm of the Y chromosome (Articolo in rivista)

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A large interstitial deletion encompassing the amelogenin gene on the short arm of the Y chromosome (Articolo in rivista) (literal)

Anno

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Alternative label

Wanda Lattanzi Æ Marilena C. Di Giacomo Wanda Lattanzi; Marilena C. Di Giacomo; Gennaro M. Lenato; Guglielmina Chimienti; Gianfranco Voglino; Nicoletta Resta; Gabriella Pepe; Ginevra Guanti (2005)
A large interstitial deletion encompassing the amelogenin gene on the short arm of the Y chromosome
in Human genetics
(literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori

Wanda Lattanzi Æ Marilena C. Di Giacomo Wanda Lattanzi; Marilena C. Di Giacomo; Gennaro M. Lenato; Guglielmina Chimienti; Gianfranco Voglino; Nicoletta Resta; Gabriella Pepe; Ginevra Guanti (literal)

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Rivista

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Note

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W. Lattanzi; M. C. Di Giacomo; G. M. Lenato; N. Resta; G. Guanti: Cattedra di Genetica Medica, Facolta` di Medicina, Università Bari, Italy G. Chimienti; G. Pepe: Dipartimento di Biochimica e Biologia Molecolare, Universita` di Bari, Italy G. Voglino: Laboratorio Genetica Molecolare e Citogenetica Promea, Torino, Italy (literal)

Titolo

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

Abstract

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-yearold 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. (literal)

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