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

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

Autor São Pedro, Simone Lima Autor UNIFESP Google Scholar
Fraietta, Renato Autor UNIFESP Google Scholar
Spaine, Deborah Montagnini Autor UNIFESP Google Scholar
Porto, Catarina Segreti Autor UNIFESP Google Scholar
Srougi, Miguel Autor UNIFESP Google Scholar
Cedenho, Agnaldo Pereira Autor UNIFESP Google Scholar
Avellar, Maria Christina Werneck Autor UNIFESP Google Scholar
Instituição Universidade Federal de São Paulo (UNIFESP)
Resumo We 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.
Palavra-chave Y chromosome
Microdeletions
Severe oligozoospermia
Azoospermia
Male infertility
Azoospermia factor
AZF region
Idioma Inglês
Data de publicação 2003-06-01
Publicado em Brazilian Journal of Medical and Biological Research. Associação Brasileira de Divulgação Científica, v. 36, n. 6, p. 787-793, 2003.
ISSN 0100-879X (Sherpa/Romeo, fator de impacto)
Publicador Associação Brasileira de Divulgação Científica
Extensão 787-793
Fonte http://dx.doi.org/10.1590/S0100-879X2003000600015
Direito de acesso Acesso aberto Open Access
Tipo Artigo
Web of Science WOS:000183866400015
SciELO S0100-879X2003000600015 (estatísticas na SciELO)
Endereço permanente http://repositorio.unifesp.br/handle/11600/1765

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