Polymorphisms associated with the DAZ genes on the human Y chromosome

Yi Wen Lin, Duyen Anh Doan Thi, Pao Lin Kuo, Chao Chin Hsu, Bor Ding Huang, Yueh Hsiang Yu, Peter H. Vogt, Walter Krause, Alberto Ferlin, Carlo Foresta, Thierry Bienvenu, Werner Schempp, Pauline H. Yen

Research output: Contribution to journalArticlepeer-review

37 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)431-438
Number of pages8
Issue number4
Publication statusPublished - 2005 Oct

All Science Journal Classification (ASJC) codes

  • Genetics


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