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

Author 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
Institution Universidade Federal de São Paulo (UNIFESP)
Abstract 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.
Keywords Y chromosome
Severe oligozoospermia
Male infertility
Azoospermia factor
AZF region
Language English
Date 2003-06-01
Published in 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, impact factor)
Publisher Associação Brasileira de Divulgação Científica
Extent 787-793
Access rights Open access Open Access
Type Article
Web of Science ID WOS:000183866400015
SciELO ID S0100-879X2003000600015 (statistics in SciELO)

Show full item record


Name: S0100-879X2003000600015.pdf
Size: 497.8Kb
Format: PDF
Open file

This item appears in the following Collection(s)




My Account