Absence of deleted in azoospermia (DAZ) genes in spermatozoa of infertile men with somatic DAZ deletions

Objective: To determine the presence or absence of the deleted in azoosperm ia (DAZ) gene clusters in the Y-bearing spermatozoa in semen of severely ol igozoospermic men or in testicular biopsy samples of azoospermic men with s omatic DAZ deletions. Design: Prospective study. Setting: Academic hospital. Patient(s): Nineteen patients attending our clinics for therapeutic intracy toplasmic injection of sperm. Intervention(s): Peripheral blood lymphocytes were used to obtain somatic D NA for analysis using the polymerase chain reaction. Analysis of chromosome s X and Y and the detection of the DAZ gene clusters were carried out with the fluorescence in situ hybridization technique in spermatozoa remaining a fter intracytoplasmic sperm injection. Main Outcome Measure(s): Presence or absence of the DAZ gene clusters in ma tched somatic DNA and Y-bearing spermatozoa. Result(s): Seven patients appeared to have a somatic DAZ deletion. Three-co lor fluorescence in situ hybridization showed that all Y-bearing spermatozo a examined from these men carried the same deletion. Conclusion(s): The DAZ deletions present in the seven men would all have be en transmitted if they had fathered sons through artificial fertilization t echniques using the sperm cells examined in this study. (C) 2001 by America n Society for Reproductive Medicine.