• PMID: 15347736
• Gene Name: DAZ1
• Condition: Infertility
• Association: The study found a high incidence of AZFc deletions in incomplete SCOS and of AZFc and DAZ1/DAZ2 deletions in incomplete MA, and we showed that deletion of the gene doublet DAZ1/DAZ2 was associated with the testicular phenotype of residual spermiogenesis.
• Mutation: AZF and DAZ gene copy-specific deletion
• Population size: 205
• Population details: 91 Infertile males ( 52 meiotic arrest, 39 Sertoli cell-only syndrome), 114 Controls
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: meiotic arrest, Sertoli cell-only syndrome

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

Ferrás C, Fernandes S, Marques CJ, Carvalho F, Alves C, Silva J, Sousa M, Barros A.

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. FAU - Ferrás, C AU - Ferrás C AD - Department of Genetics, Faculty of Medicine, Institute of Biomedical Sciences Abel Salazar, University of Porto, Porto, Portugal. FAU - Fernandes, S AU - Fernandes S FAU - Marques, C J AU - Marques CJ FAU - Carvalho, F AU - Carvalho F FAU - Alves, C AU - Alves C FAU - Silva, J AU - Silva J FAU - Sousa, M AU - Sousa M