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Mol. Hum. Reprod. Advance Access originally published online on March 7, 2008
Molecular Human Reproduction 2008 14(4):251-258; doi:10.1093/molehr/gan014
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© The Author 2008. 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

Identification of new breakpoints in AZFb and AZFc

Paula Costa1, Rita Gonçalves2, Cristina Ferrás1, Susana Fernandes1,5, Ana Teresa Fernandes2, Mário Sousa1,3,4 and Alberto Barros1,4

1Department of Genetics, Faculty of Medicine, University of Porto, Alameda Prof. Hernâni Monteiro, 4200-319 Porto, Portugal 2Laboratory of Human Genetics, University of Madeira, Funchal, Madeira, Portugal 3Laboratory of Cell Biology, Institute of Biomedical Sciences Abel Salazar (ICBAS), University of Porto, 4099-003 Porto, Portugal 4 Centre for Reproductive Genetics A Barros, 4100-009 Porto, Portugal

5 Correspondence address. Tel: +351-22-551-36-47; Fax: +351-22-551-36-48; E-mail: sf{at}med.up.pt

Microdeletions in AZFa, AZFb and AZFc regions lead to different patterns of male infertility, from severe oligozoospermia to non-obstructive azoospermia. Intrachromosomal homologous recombination mechanisms were already identified in patients with simultaneous microdeletions in the AZFb and AZFc regions. Ten patients with atypical AZFb and AZFc deletion patterns were studied. The definition of those microdeletions and the fine characterization of the respective breakpoints were performed using sequence tagged sites/single nucleotide variants-PCR and DNA sequencing. Y-chromosome haplogroups were determined to establish a putative association with the patterns obtained. Seven deletion patterns were identified, P5/terminal (30%; 3/10), P5/P1 distal (20%; 2/10), IR4/distal-P2, IR2/proximal-P1, IR4/distal-P1, P4/terminal and complete AZFb/c deletion (10%; 1/10). Breakpoint sequence analysis suggests that only in one patient the P5/P1 distal deletion pattern was due to a homologous recombination mechanism. Sequence alignment of the other deletion patterns suggest that they have resulted from non-homologous recombination mechanisms.

Key words: non-obstructive azoospermia/AZFb deletions/AZFb+c deletions/Y chromosome

Submitted on December 20, 2007; resubmitted on February 28, 2008; accepted on March 3, 2008.


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