Mol. Hum. Reprod. Advance Access originally published online on September 3, 2004
Molecular Human Reproduction 2004 10(10):755-761; doi:10.1093/molehr/gah104
| ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
AZF and DAZ gene copy-specific deletion analysis in maturation arrest and Sertoli cell-only syndrome
1Department of Genetics, Faculty of Medicine, 2Centre for Reproductive Genetics Alberto Barros and 3Laboratory of Cell Biology, Institute of Biomedical Sciences Abel Salazar, University of Porto, Porto, Portugal
4 To whom correspondence should be addressed at: Laboratory of Cell Biology, Institute of Biomedical Sciences Abel Salazar, University of Porto, Lg Prof Abel Salazar 2, 4099-003 Porto, Portugal. Email: msousa{at}icbas.up.pt
Deletions of the AZFc region in Yq11.2, which include the DAZ gene family, are responsible for most cases of male infertility and were associated with severe oligozoospermia and also with a variable testicular pathology. To uncover the functional contribution of DAZ to human spermatogenesis, a DAZ gene copy-specific deletion analysis was previously established and showed that DAZ1/DAZ2 deletions associate with oligozoospermia. In this study we applied the same screening method to 50 control fertile males and 91 non-obstructive azoospermic males, 39 with Sertoli cell-only syndrome (SCOS) and 52 with meiotic arrest (MA). Samples were also screened with 24 sequence-tagged sites to the different AZF regions, including 114 control fertile males. After biopsy (testicular sperm extraction, TESE), residual spermiogenesis was found in 57.7% MA and 30.8% SCOS cases (incomplete syndromes). DAZ1/DAZ2 deletions were associated with the testicular phenotype of residual spermiogenesis as they were only found in two patients (8%) with incomplete MA. Differences between incomplete (23.3%) and complete (4.5%) MA cases regarding AZFc and DAZ1/DAZ2 deletion frequencies, and between incomplete (58.3%) and complete (11.1%) SCOS cases for AZFc deletions, suggest that incomplete syndromes might represent an aggravation of the oligozoospermic phenotype. As successful TESE was achieved in 87.5% of MA cases with AZFc and DAZ1/DAZ2 deletions and in 58.3% of SCOS cases with AZFc deletions, the present results also suggest that these molecular markers might be used for the establishment of a prognosis before TESE.
Key words: azoospermia/AZFc-DAZ microdeletions/meiotic arrest/Sertoli cell-only syndrome/Y chromosome
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  C. Mau Kai, A. Juul, K. McElreavey, A.M. Ottesen, I.D. Garn, K.M. Main, A. Loft, N. Jorgensen, N.E. Skakkebaek, A. N. Andersen, et al. Sons conceived by assisted reproduction techniques inherit deletions in the azoospermia factor (AZF) region of the Y chromosome and the DAZ gene copy number Hum. Reprod., July 1, 2008; 23(7): 1669 - 1678. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 P. Costa, R. Goncalves, C. Ferras, S. Fernandes, A. T. Fernandes, M. Sousa, and A. Barros Identification of new breakpoints in AZFb and AZFc Mol. Hum. Reprod., April 1, 2008; 14(4): 251 - 258. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
A. T. Fernandes, S. Fernandes, R. Goncalves, R. Sa, P. Costa, A. Rosa, C. Ferras, M. Sousa, A. Brehm, and A. Barros DAZ gene copies: evidence of Y chromosome evolution Mol. Hum. Reprod., August 1, 2006; 12(8): 519 - 523. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 P. H. Vogt AZF deletions and Y chromosomal haplogroups: history and update based on sequence Hum. Reprod. Update, July 1, 2005; 11(4): 319 - 336. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. J. Pinho, R. Neves, P. Costa, C. Ferras, M. Sousa, C. Alves, C. Almeida, S. Fernandes, J. Silva, L. Ferras, et al. Unique t(Y;1)(q12;q12) reciprocal translocation with loss of the heterochromatic region of chromosome 1 in a male with azoospermia due to meiotic arrest: a case report Hum. Reprod., March 1, 2005; 20(3): 689 - 696. [Abstract] [Full Text] [PDF]
|
|