• PMID: 11239526
• Gene Name: DAZ1
• Condition: Infertility
• Association: The results of this study show that the Y-bearing sperm of men with somatic DAZ deletions
• Mutation: Deletions in the DAZ gene
• Population size: 19
• Population details: 19 infertile
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: azoospermia, oligozoospermia

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

de Vries JW, Repping S, Oates R, Carson R, Leschot NJ, van der Veen F.

OBJECTIVE: To determine the presence or absence of the deleted in azoospermia (DAZ) gene clusters in the Y-bearing spermatozoa in semen of severely oligozoospermic men or in testicular biopsy samples of azoospermic men with somatic DAZ deletions. DESIGN: Prospective study. SETTING: Academic hospital. PATIENT(S): Nineteen patients attending our clinics for therapeutic intracytoplasmic injection of sperm. INTERVENTION(S): Peripheral blood lymphocytes were used to obtain somatic DNA for analysis using the polymerase chain reaction. Analysis of chromosomes X and Y and the detection of the DAZ gene clusters were carried out with the fluorescence in situ hybridization technique in spermatozoa remaining after intracytoplasmic sperm injection. MAIN OUTCOME MEASURE(S): Presence or absence of the DAZ gene clusters in matched somatic DNA and Y-bearing spermatozoa. RESULT(S): Seven patients appeared to have a somatic DAZ deletion. Three-color fluorescence in situ hybridization showed that all Y-bearing spermatozoa examined from these men carried the same deletion. CONCLUSION(S): The DAZ deletions present in the seven men would all have been transmitted if they had fathered sons through artificial fertilization techniques using the sperm cells examined in this study. FAU - de Vries, J W AU - de Vries JW AD - Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Academic Medical Center, Amsterdam, The Netherlands. j.w.devries@amc.uva.nl FAU - Repping, S AU - Repping S FAU - Oates, R AU - Oates R FAU - Carson, R AU - Carson R FAU - Leschot, N J AU - Leschot NJ