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

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.