• PMID: 16085382
• Gene Name: DAZ1
• Condition: Infertility
• Association: 6% of the infertile population showed gr/gr deletion
• Mutation: gr/gr deletion
• Population size: 82
• Sex: Male
• Infertility type: Male infertility

Polymorphisms associated with the DAZ genes on the human Y chromosome

Lin YW, Thi DA, Kuo PL, Hsu CC, Huang BD, Yu YH, Vogt PH, Krause W, Ferlin A, Foresta C, Bienvenu T, Schempp W, Yen PH.

The human Y chromosome is unique in that it does not engage in pairing and crossing over during meiosis for most of its length. Y chromosome microdeletions, a frequent finding in infertile men, thus occur through intrachromosomal recombination, either within a single chromatid or between sister chromatids. A recently identified polymorphism associated with increased risk for spermatogenic failure, the gr/gr deletion, removes two of the four Deleted in Azoospermia (DAZ) genes in the AZFc region on the Y-chromosome long arm. We found the likely reciprocal duplication product of gr/gr deletion in 5 (6%) of 82 males using a novel DNA-blot hybridization strategy and confirmed the presence of six DAZ genes in three cases by FISH analysis. Additional polymorphisms identified within the DAZ repeat regions of the DAZ genes indicate that sister chromatid exchange plays a significant role in the genesis of deletions, duplications, and polymorphisms of the Y chromosome. FAU - Lin, Yi-Wen AU - Lin YW AD - Graduate Institute of Life Sciences, National Defense Medical Center, Taipei, Taiwan. FAU - Thi, Duyen Anh Doan AU - Thi DA FAU - Kuo, Pao-Lin AU - Kuo PL FAU - Hsu, Chao-Chin AU - Hsu CC FAU - Huang, Bor-Ding AU - Huang BD FAU - Yu, Yueh-Hsiang AU - Yu YH FAU - Vogt, Peter H AU - Vogt PH FAU - Krause, Walter AU - Krause W FAU - Ferlin, Alberto AU - Ferlin A FAU - Foresta, Carlo AU - Foresta C FAU - Bienvenu, Thierry AU - Bienvenu T FAU - Schempp, Werner AU - Schempp W