Detection of Y Chromosome Microdeletions by PCR

Y chromosome microdeletions like DAZ (deletion in azoospermia) and RBM (RNA binding motif gene) cause spermatogenic defects. In the Yq arm, intervals V and VI comprise an Azoospermia Factor (AZF) which contains the DAZ and RBM genes. Several genes have been identified within this region and have been proposed candidates for infertility. We now check for 30 different microdeletions in the AZF region by multiplex PCR.

If Y chromosome microdeletions are seen only in the AZFc region, there is a good chance that TESA will be successful. However, if microdeletions are seen in the AZFa and AZFb regions, the chances of success after TESA are poor.

Multiplex PCR for Y Microdeletions

Sample: 3-5ml Blood in Potassium EDTA vaccutainer (purple top tube), transported at room temperature.