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.
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.
Authors: Helen Skaletsky; Tomoko Kuroda-Kawaguchi; Patrick J Minx; Holland S Cordum; LaDeana Hillier; Laura G Brown; Sjoerd Repping; Tatyana Pyntikova; Johar Ali; Tamberlyn Bieri; Asif Chinwalla; Andrew Delehaunty; Kim Delehaunty; Hui Du; Ginger Fewell; Lucinda Fulton; Robert Fulton; Tina Graves; Shun-Fang Hou; Philip Latrielle; Shawn Leonard; Elaine Mardis; Rachel Maupin; John McPherson; Tracie Miner; William Nash; Christine Nguyen; Philip Ozersky; Kymberlie Pepin; Susan Rock; Tracy Rohlfing; Kelsi Scott; Brian Schultz; Cindy Strong; Aye Tin-Wollam; Shiaw-Pyng Yang; Robert H Waterston; Richard K Wilson; Steve Rozen; David C Page Journal: Nature Date: 2003-06-19 Impact factor: 49.962
Authors: Sjoerd Repping; Saskia K M van Daalen; Cindy M Korver; Laura G Brown; Janet D Marszalek; Judith Gianotten; Robert D Oates; Sherman Silber; Fulco van der Veen; David C Page; Steve Rozen Journal: Genomics Date: 2004-06 Impact factor: 5.736
Authors: P H Vogt; A Edelmann; S Kirsch; O Henegariu; P Hirschmann; F Kiesewetter; F M Köhn; W B Schill; S Farah; C Ramos; M Hartmann; W Hartschuh; D Meschede; H M Behre; A Castel; E Nieschlag; W Weidner; H J Gröne; A Jung; W Engel; G Haidl Journal: Hum Mol Genet Date: 1996-07 Impact factor: 6.150
Authors: L Visser; G H Westerveld; C M Korver; S K M van Daalen; S E Hovingh; S Rozen; F van der Veen; S Repping Journal: Hum Reprod Date: 2009-07-14 Impact factor: 6.918