title: [Association of the deleted DAZ gene copy related to gr/gr and b2/b3 deletions with spermatogenic impairment].
abstract: 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.
  
  
  CONCLUSIONS
  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.
authors.forename: Ya-min
authors.initials: YM
authors.lastname: Wang
authors.forename: Quan
authors.initials: Q
authors.lastname: Li
authors.forename: Le-bin
authors.initials: LB
authors.lastname: Song
authors.forename: Jia-yi
authors.initials: JY
authors.lastname: Zhang
authors.forename: Jie
authors.initials: J
authors.lastname: Yang
authors.forename: Ning-hong
authors.initials: NH
authors.lastname: Song
mesh_terms: D000075364:Deleted in Azoospermia 1 Protein; D017353:Gene Deletion; D018628:Gene Dosage; D006801:Humans; D008297:Male; D016601:RNA-Binding Proteins / Q000235:genetics*; D013091:Spermatogenesis / Q000235:genetics*
chemical_list: C095668:DAZ1 protein, human; D000075364:Deleted in Azoospermia 1 Protein; D016601:RNA-Binding Proteins