Prevalence of Y chromosome deletions in a Brazilian population of nonobstructive azoospermic and severely oligozoospermic men

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dc.contributor.authorSão Pedro, Simone Lima [UNIFESP]
dc.contributor.authorFraietta, Renato [UNIFESP]
dc.contributor.authorSpaine, Deborah Montagnini [UNIFESP]
dc.contributor.authorPorto, Catarina Segreti [UNIFESP]
dc.contributor.authorSrougi, Miguel [UNIFESP]
dc.contributor.authorCedenho, Agnaldo Pereira [UNIFESP]
dc.contributor.authorAvellar, Maria Christina Werneck [UNIFESP]
dc.contributor.institutionUniversidade Federal de São Paulo (UNIFESP)
dc.date.accessioned2015-06-14T13:30:03Z
dc.date.available2015-06-14T13:30:03Z
dc.date.issued2003-06-01
dc.description.abstractWe determined the prevalence of Y chromosome deletions in a population of 60 Brazilian nonobstructive azoospermic and severely oligozoospermic men. PCR-based screening of microdeletions was performed on lymphocyte DNA for the presence of 14 sequence-tagged sites (STS) located in the azoospermic factor (AZF) on the Yq chromosome. All STS were amplified efficiently in samples from 12 fertile men tested, but failed to be amplified in samples from fertile women, indicating the specificity of PCR conditions for Yq screening. Overall, 4 of the 60 infertile patients tested (6.7%) exhibited deletion of the Y chromosome, 2 of them being severely oligozoospermic patients (P10 and P32) and 2 azoospermic men (patients P47 and P57). Patients P47 and P57 presented larger deletions in the AZFa, AZFb and AZFc subregions, with apparent loss of Yq material evidenced by karyotype analysis. Patients P10 and P32 presented deletions confined to the AZFc region, involving the DAZ locus. Male relatives of patients P10 and P32 had no Y chromosome deletions and presented a normal karyotype, suggesting a de novo status of the deletions found. Our data add to the growing literature showing that microdeletions of the Y chromosome can be the cause of male idiopathic infertility.en
dc.description.affiliationUniversidade Federal de São Paulo (UNIFESP) Escola Paulista de Medicina Departamento de Farmacologia
dc.description.affiliationUniversidade Federal de São Paulo (UNIFESP) Escola Paulista de Medicina
dc.description.affiliationUnifespUNIFESP, EPM, Depto. de Farmacologia
dc.description.affiliationUnifespUNIFESP, EPM
dc.description.sourceSciELO
dc.format.extent787-793
dc.identifierhttp://dx.doi.org/10.1590/S0100-879X2003000600015
dc.identifier.citationBrazilian Journal of Medical and Biological Research. Associação Brasileira de Divulgação Científica, v. 36, n. 6, p. 787-793, 2003.
dc.identifier.doi10.1590/S0100-879X2003000600015
dc.identifier.fileS0100-879X2003000600015.pdf
dc.identifier.issn0100-879X
dc.identifier.scieloS0100-879X2003000600015
dc.identifier.urihttp://repositorio.unifesp.br/handle/11600/1765
dc.identifier.wosWOS:000183866400015
dc.language.isoeng
dc.publisherAssociação Brasileira de Divulgação Científica
dc.relation.ispartofBrazilian Journal of Medical and Biological Research
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectY chromosomeen
dc.subjectMicrodeletionsen
dc.subjectSevere oligozoospermiaen
dc.subjectAzoospermiaen
dc.subjectMale infertilityen
dc.subjectAzoospermia factoren
dc.subjectAZF regionen
dc.titlePrevalence of Y chromosome deletions in a Brazilian population of nonobstructive azoospermic and severely oligozoospermic menen
dc.typeinfo:eu-repo/semantics/article
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