title: No partial DAZ deletions but frequent gene conversion events on the Y chromosome of fertile men.
abstract: OBJECTIVE
  Recently, partial DAZ deletions on the Y chromosome were identified in infertile men. To determine the clinical importance of partial DAZ deletion, we studied the number of DAZ copies in a well-defined population of 47 fertile men.
  
  
  METHODS
  The number of DAZ gene copies was determined by PCR assays, qualitative and quantitative DNA blot experiments.
  
  
  RESULTS
  Using semi-quantitative Southern blot, no partial DAZ deletion was detected in fertile men. In many cases, the results were discordant with the PCR assays and qualitative DYS1-blot experiments suggesting that the molecular events detected by the later methods could reflect gene conversion events. Many fertile men present four copies of the DAZ genes but an atypical organization of this DAZ locus. No difference in sperm concentration and motility in the fertile men were observed according to the different DAZ-haplotypes.
  
  
  CONCLUSIONS
  The different DAZ-haplotypes are compatible with normal spermatogenesis.
authors: Laboratoire de Biochimie et Génétique Moléculaires, CHU Cochin, 123 bld de Port-Royal, 75014 Paris, France.
authors: Anne Claire
authors: AC
authors: Lepretre
authors: Catherine
authors: C
authors: Patrat
authors: Michael
authors: M
authors: Mitchell
authors: Pierre
authors: P
authors: Jouannet
authors: Thierry
authors: T
authors: Bienvenu
mesh_terms: D000328:Adult; D015139:Blotting, Southern; D041322:Chromosomes, Human, Y / Q000235:genetics*; D004252:DNA Mutational Analysis; D000075364:Deleted in Azoospermia 1 Protein; D005298:Fertility / Q000235:genetics*; D005785:Gene Conversion; D006239:Haplotypes; D006801:Humans; D008297:Male; D016133:Polymerase Chain Reaction; D016601:RNA-Binding Proteins / Q000235:genetics*; D013091:Spermatogenesis / Q000502:physiology
chemical_list: C095668:DAZ1 protein, human; D000075364:Deleted in Azoospermia 1 Protein; D016601:RNA-Binding Proteins