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PMID 26931020
Gene Name DAZ3
Condition Spermatogenesis impairment, Male infertility
Association Associated
Mutation b2/b3-DAZ1/DAZ2, 3 gr/ gr-DAZ1/DAZ2, 10 gr/gr-DAZ3/DAZ4 deletions, 1 b2/b3- DAZ3/DAZ4 deletions
Population size 216
Population details 216 (121 infertile men with different degrees of spermatogenic impairment, 95 healthy donors)
Sex Male
Infertility type Male infertility
Other associated phenotypes Spermatogenesis impairment, Male infertility


[Association of the deleted DAZ gene copy related to gr/gr and b2/b3 deletions with spermatogenic impairment]

Wang YM, Li Q, Song LB, Zhang JY, Yang J, Song NH.

OBJECTIVE: To investigate the correlation of the deleted azoospermia (DAZ) gene copy related to gr/gr and b2/b3 deletions in the AZFc region with male spermatogenic impairment. METHODS: This study included 121 infertile men with different de- grees of spermatogenic impairment and 95 healthy donors from the sperm bank. Using PCR, PCR-RFLP, and Y chromosome specific sequence tagged sites (STS) , we analyzed the association of DAZ gene copy deletions related to gr/gr and b2/b3 deletions in the AZFc region with spermatogenic impairment. RESULTS: There were 15 cases of gr/gr deletion (12. 40% ) and 6 cases of b2/b3 deletion (4.96%) in the infertility group as compared with 13 cases of gr/gr deletion (13.68%) and 1 case of b2/b3 deletion (1.05%) in the control. Analysis of the DAZ-specific single nucleotide variant (SNV) loci revealed 11 gr/gr-DAZI/DAZ2 deletions (9.09%), 4 gr/gr-DAZ3/DAZ4 deletions (3.31%), and 6 b2/b3-DAZ1/DAZ2 deletions (4.96%) in the infertile men in comparison with 3 gr/ gr-DAZ1/DAZ2 deletions (3.16%), 10 gr/gr-DAZ3/DAZ4 deletions (10.53%), and 1 b2/b3- DAZ3/DAZ4 deletion (1.05%) in the control. CONCLUSION: Partial deletions of gr/gr and b2/b3 exist in both healthy men and male patients with different degrees of spermatogenic impairment and cannot be considered as a risk factor for spermatogenesis impairment. However, deletions of different DAZ duplicons in gr/gr and b2/b3 deletions have different effects on spermatogenesis. DAZ1/DAZ2 instead of DAZ3/DAZ4 deletions might be associated with spermatogenesis impairment. FAU - Wang, Ya-min AU - Wang YM FAU - Li, Quan AU - Li Q FAU - Song, Le-bin AU - Song LB FAU - Zhang, Jia-yi AU - Zhang JY FAU - Yang, Jie AU - Yang J