• PMID: 23512232
• Gene Name: DAZ4
• Condition: Infertility
• Association: The study shows that DAZ3/DAZ4 has very little effect on male infertility
• Mutation: gr/gr-DAZ3/DAZ4 deletion
• Population size: 5
• Population details: 4 controls, 1 infertile
• Sex: Male
• Infertility type: Male infertility
• Associated genes: DAZ1, DAZ2

Association of DAZ1/DAZ2 deletion with spermatogenic impairment and male infertility in the South Chinese population

Li Q, Qiao D, Song NH, Ding Y, Wang ZJ, Yang J, Wang W, Yin CJ.

PURPOSE: To investigate the effect of the deleted in azoospermia (DAZ) copy cluster deletion on spermatogenesis in the South Chinese population. METHODS: In this study, the prevalence and characteristics of different DAZ copy cluster deletions and their association with spermatogenic failure were analyzed. A total of 186 infertile men with different spermatogenic impairments and 190 normozoospermic fertile men were studied. Three DAZ-specific single nucleotide variant loci and seven AZFc-specific sequence-tagged sites were examined using polymerase chain reaction (PCR)-restriction fragment length polymorphism and routine PCR. RESULTS: Gr/gr deletions were observed in a total of 9 of the 190 normozoospermic fertile men, and 11 gr/gr deletions were found in 186 infertile men. In addition, 3 b2/b3 deletions were identified in the infertile, but not in the fertile men. DAZ-SNV loci analysis revealed 4 DAZ copies that had 8 gr/gr-DAZ3/DAZ4 deletions and 1 gr/gr-DAZ1/DAZ2 deletion in the fertile men (8/190 vs. 1/190, p = 0.037). Analysis of DAZ deletion copies in infertile men revealed 10 gr/gr-DAZ1/DAZ2 deletions, 1 gr/gr-DAZ3/DAZ4 deletion (10/186 vs. 1/186, p = 0.011) and 3 b2/b3-DAZ1/DAZ2 deletions (13/186 vs. 1/186, p = 0.002). CONCLUSIONS: Analysis of DAZ gene copies in AZFc microdeletions suggests that the contribution of the different deletions to male infertility varies. Removing DAZ1/DAZ2 seems to be associated with spermatogenic impairment, whereas removing DAZ3/DAZ4 seems to have little or no effect on fertility in the South Chinese population. FAU - Li, Quan AU - Li Q AD - Department of Urology, The First Affiliated Hospital of Nanjing Medical University, 300 Guangzhou Road, Nanjing, 210029, China. FAU - Qiao, Di AU - Qiao D FAU - Song, Ning-hong AU - Song NH FAU - Ding, Yi AU - Ding Y FAU - Wang, Zeng-jun AU - Wang ZJ FAU - Yang, Jie AU - Yang J FAU - Wang, Wei AU - Wang W