• PMID: 11694223
• Gene Name: DAZ1
• Condition: Infertility
• Association: The study suggests that partial deletions of the DAZ gene cluster could be a cause of impaired spermatogenesis
• Mutation: Microdeletions in Yq
• Population size: 2
• Population details: 2 infertile
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Impaired spermatogenesis

Reduction in the DAZ gene copy number in two infertile men with impaired spermatogenesis

Bienvenu T, Patrat C, McElreavey K, de Almeida M, Jouannet P.

Microdeletions of Yq are associated with azoospermia and severe oligozoospermia. Recently, we described a new molecular genetic strategy based on the denaturing gradient gel electrophoresis (DGGE) to rapidly identify deletions of the Y chromosome that include the DAZ locus. Using this approach, we have shown not a complete deletion but only a reduction in the number of copies of the DAZ gene by PCR-DGGE in two oligozoospermic patients. These results have been confirmed by Southern blot analysis. This finding suggests that partial deletion of the DAZ cluster could be cause of impaired spermatogenesis. FAU - Bienvenu, T AU - Bienvenu T AD - Laboratoire de Biochimie et Génétique Moléculaire and INSERM U 129, CHU Cochin, 123 boulevard de Port Royal, 75014, Paris, France. bienvenu@cochin.inserm.fr FAU - Patrat, C AU - Patrat C FAU - McElreavey, K AU - McElreavey K FAU - de Almeida, M AU - de Almeida M