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Mol. Hum. Reprod. Advance Access originally published online on April 5, 2006
Molecular Human Reproduction 2006 12(4):269-273; doi:10.1093/molehr/gal029
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© The Author 2006. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

No association found between gr/gr deletions and infertility in Brazilian males

Cláudia M.B. Carvalho1, Luciana W. Zuccherato1, Luciana Bastos-Rodrigues1, Fabrício R. Santos2 and Sérgio D.J. Pena1,3

1Departamento de Bioquímica e Imunologia and 2Departamento de Biologia Geral Universidade Federal de Minas Gerais, Belo Horizonte, Minas Gerais, Brazil

3 To whom correspondence should be addressed at: Departamento de Bioquímica e Imunologia, ICB, UFMG, Av. Antônio Carlos 6627 31270-010, Belo Horizonte, Minas Gerais, Brazil. E-mail: spena{at}dcc.ufmg.br

The Y chromosome carries several spermatogenesis genes distributed in three regions: AZFa, AZFb and AZFc. Microdeletions in these regions have been seen in 10% of sterile males with azoospermia or oligozoospermia, the most frequent of them being characterized by a complete deletion of AZFc region. A partial AZFc deletion named gr/gr has been singled out as a risk factor for spermatogenic failure. However, other authors have diagnosed it as a polymorphic deletion with no clinical relevance. We decided to investigate the association of gr/gr deletion and infertility in Brazilian males. We analysed 350 individuals (110 azoospermic, 122 fertile and 118 presumably fertile) and observed 12 g/gr deletions: five in infertile men (4.5%), three among fertile males (2.5%) and four in probably fertile individuals (3.4%). These differences were not statistically significant. Then, we decided to ascertain whether the clinical impact of the gr/gr deletion was associated with the type of Y chromosome. We have identified Y-chromosome haplogroups using 22 unique event polymorphisms (UEPs). Among the individuals with the gr/gr deletion, we found haplogroups R, K*, F*, E1, E3b2 and E3b*, all of which are common in white Brazilian males, and none revealed a particular association with infertility. Taken together, these results show no evidence of association between the occurrence of gr/gr deletion and male infertility.

Key words: AZFc/gr-gr deletion/male infertility/minisequencing/Y chromosome


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