PURPOSE: 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. CONCLUSION: The different DAZ-haplotypes are compatible with normal spermatogenesis.
PURPOSE: 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. CONCLUSION: The different DAZ-haplotypes are compatible with normal spermatogenesis.
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: Jan W A de Vries; Sjoerd Repping; Saskia K M van Daalen; Cindy M Korver; Nico J Leschot; Fulco van der Veen Journal: Fertil Steril Date: 2002-12 Impact factor: 7.329
Authors: Jan W A de Vries; Mariëtte J V Hoffer; Sjoerd Repping; Jan M N Hoovers; Nico J Leschot; Fulco van der Veen Journal: Fertil Steril Date: 2002-01 Impact factor: 7.329
Authors: S Fernandes; K Huellen; J Goncalves; H Dukal; J Zeisler; E Rajpert De Meyts; N E Skakkebaek; B Habermann; W Krause; M Sousa; A Barros; P H Vogt Journal: Mol Hum Reprod Date: 2002-03 Impact factor: 4.025
Authors: Sjoerd Repping; Jan W A de Vries; Saskia K M van Daalen; Cindy M Korver; Nico J Leschot; Fulco van der Veen Journal: Mol Hum Reprod Date: 2003-04 Impact factor: 4.025