Mol. Hum. Reprod. Advance Access originally published online on April 11, 2006
Molecular Human Reproduction 2006 12(5):347-351; doi:10.1093/molehr/gal038
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A two-step protocol for the detection of rearrangements at the AZFc region on the human Y chromosome
1Graduate Institute of Life Sciences, National Defense Medical Center and 2Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan
3 To whom correspondence should be addressed at: Institute of Biomedical Sciences, Academia Sinica, Taipei 11529, Taiwan. E-mail: pyen{at}ibms.sinica.edu.tw
The AZFc region on the human Y chromosome consists mainly of very long direct and inverted repeats and is prone to rearrangement. Although deletion of the entire AZFc is found only in subfertile men, duplications and deletions of portions of AZFc as well as inversions are quite common and represent major polymorphisms of the Y chromosome. Several methods are available to detect these rearrangements, and each has its own advantages and limits. We designed a two-step PCR protocol to study the polymorphic structure of AZFc. The first PCR determines the copy number of the Deleted in Azoospermia (DAZ) genes within AZFc using the autosomal DAZ-Like gene as a dosage control, and the results could be verified by dosage Southern blot analyses. The second PCR simultaneously detects five sequence tagged sites (STSs) that are either present or absent in the various AZFc partial deletions. One of the STSs, sY1291, was found to be polymorphic in size due to varying lengths of a poly-T stretch. A combination of the DAZ dosage PCR and the 5-STS multiplex PCR reaction detects most, if not all, deletions and duplications at AZFc. It offers a simple and reliable way to screen large populations for AZFc rearrangements and study their effects on male fertility.
Key words: AZFc/DAZ/male infertility/Y chromosome
* These authors contributed equally to the work.
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