Polymorphisms associated with the DAZ genes on the human Y chromosome |
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Authors: | Lin Yi-Wen Thi Duyen Anh Doan Kuo Pao-Lin Hsu Chao-Chin Huang Bor-Ding Yu Yueh-Hsiang Vogt Peter H Krause Walter Ferlin Alberto Foresta Carlo Bienvenu Thierry Schempp Werner Yen Pauline H |
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Institution: | Graduate Institute of Life Sciences, National Defense Medical Center, Taipei, Taiwan. |
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Abstract: | 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. |
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