Antonia Ratti1, Liborio Stuppia2,3, Valentina Gatta2, Isabella Fogh1, G Calabrese2,4, Antonio Pizzuti5,1, G Pałka2,4
1Istituto di Clinica Neurologica, Università di Milano, Ospedale Policlinico IRCCS
2Dipartimento di Scienze Biomediche, Sezione di Genetica Medica, Università "G. D'Annunzio," Chieti
3Istituto di Citomorfologia Umana Normale e Patologica CNR, Chieti
4Servizio di Genetica Umana, Ospedale Civile di Pescara
5C.S.S.-Mendel Institute IRCCS, San Giovanni Rotondo (Italy).
Tóm tắt
We investigated subinterval 6E on the human Y chromosome, a region frequently deleted in infertile males. YAC yOX17, mapped within subinterval 6E by STS-PCR, was analyzed for the presence of new genes. TSPYq1, a member of the TSPY multi-copy gene family, was isolated and character- ized from a yOX17 cosmid subclone. PCR and FISH analysis performed on normal subjects and on patients with microdeletions of Yq suggested the presence of multiple copies of TSPY in Yq.