AZF and DAZ gene copy-specific deletion analysis in maturation arrest and Sertoli cell-only syndrome

• Type: Article in International Scientific Journal
• Date: 2004

Authors

Ferras, C (Author) Other; Fernandes, S (Author) Other; Marques, CJ (Author) Other; carvalho, f (Author) FMUP; Alves, C (Author) Other; Silva, J (Author) Other; sousa, m (Author) ICBAS; barros, a (Author) FMUP

Journal

Title: Molecular Human Reproduction

Vol. 10

Pages: 755-761

ISSN: 1360-9947

Publisher: Oxford University Press

Indexing

ISI Web of Knowledge - 38 Citations

Scopus - 48 Citations

Other information

Authenticus ID: P-000-8CC

DOI: 10.1093/molehr/gah104

Abstract (EN): 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.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 7