Detection of azoospermic factor genes in Chinese men with azoospermia or severe oligozoospermia

Purpose: We investigated the prevalence of deletions in the azoospermic factor (AZF) region of chromosome Yq11 in Chinese men with infertility due to idiopathic azoospermia or severe oligozoospermia. The DAZ gene cluster was also examined for mutations. Methods: Sixty-eight men with azoospermia or severe oligozoospermia taking part in an intracytoplasmic sperm injection program were recruited. Four loci specific for AZFa, AZFb, and AZFc were amplified from genomic DNA via polymerase chain reaction to determine whether deletions were present in the AZF region. Direct DNA sequencing of amplified products was also performed to look for mutations or polymorphism from exon 2 to exon 6 of the DAZ gene cluster. Results: Six (9%) of the 68 patients had AZF deletions. None had mutations in exons 2 to 6 of DAZ. Conclusions: The prevalence of AZF deletions in our study was similar to those in Western reports, as was the lack of DAZ mutations.