Prevalence of Y chromosome deletions in a Brazilian population of nonobstructive azoospermic and severely oligozoospermic men
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 fact...
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Associação Brasileira de Divulgação Científica
2003-06-01
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doaj-ba24d7bf3fe24b1a810db296445335642020-11-24T23:50:16ZengAssociação Brasileira de Divulgação CientíficaBrazilian Journal of Medical and Biological Research0100-879X1414-431X2003-06-0136678779310.1590/S0100-879X2003000600015Prevalence of Y chromosome deletions in a Brazilian population of nonobstructive azoospermic and severely oligozoospermic menS.L. SãoPedroR. FraiettaD. SpaineC.S. PortoM. SrougiA.P. CedenhoM.C.W. AvellarWe 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.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2003000600015Y chromosomeMicrodeletionsSevere oligozoospermiaAzoospermiaMale infertilityAzoospermia factorAZF region |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
S.L. SãoPedro R. Fraietta D. Spaine C.S. Porto M. Srougi A.P. Cedenho M.C.W. Avellar |
spellingShingle |
S.L. SãoPedro R. Fraietta D. Spaine C.S. Porto M. Srougi A.P. Cedenho M.C.W. Avellar Prevalence of Y chromosome deletions in a Brazilian population of nonobstructive azoospermic and severely oligozoospermic men Brazilian Journal of Medical and Biological Research Y chromosome Microdeletions Severe oligozoospermia Azoospermia Male infertility Azoospermia factor AZF region |
author_facet |
S.L. SãoPedro R. Fraietta D. Spaine C.S. Porto M. Srougi A.P. Cedenho M.C.W. Avellar |
author_sort |
S.L. SãoPedro |
title |
Prevalence of Y chromosome deletions in a Brazilian population of nonobstructive azoospermic and severely oligozoospermic men |
title_short |
Prevalence of Y chromosome deletions in a Brazilian population of nonobstructive azoospermic and severely oligozoospermic men |
title_full |
Prevalence of Y chromosome deletions in a Brazilian population of nonobstructive azoospermic and severely oligozoospermic men |
title_fullStr |
Prevalence of Y chromosome deletions in a Brazilian population of nonobstructive azoospermic and severely oligozoospermic men |
title_full_unstemmed |
Prevalence of Y chromosome deletions in a Brazilian population of nonobstructive azoospermic and severely oligozoospermic men |
title_sort |
prevalence of y chromosome deletions in a brazilian population of nonobstructive azoospermic and severely oligozoospermic men |
publisher |
Associação Brasileira de Divulgação Científica |
series |
Brazilian Journal of Medical and Biological Research |
issn |
0100-879X 1414-431X |
publishDate |
2003-06-01 |
description |
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. |
topic |
Y chromosome Microdeletions Severe oligozoospermia Azoospermia Male infertility Azoospermia factor AZF region |
url |
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2003000600015 |
work_keys_str_mv |
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