AZF Deletion Analysis by Multiple PCR

200~500 bp DNA sequence fragments termed sequence-tagged sites (STSs) could be considered as markers for genetically physical mapping and used in genetic screening (Olson et al., 1989). We performed multiple PCR of 15 STSs to detect microdeletions in the spermatogenesis and testiculopathy-associated regions (i.e., AZFa, AZFb, AZFc, and AZFd in the AZF region of proband’s SRY gene) to characterize the future fertility status and possible genotype-phenotype correlations of the proband. Totally, three sites in AZFa, six sites in AZFb, four sites in AZFc, and two sites in AZFd were studied.