Comprehensive Genomic Study in Patients with Idiopathic Azoospermia and Oligoasthenoteratozoospermia

摘要

Infertility affects 10% to 15% of all couples. In about 40% of the cases the male factor is reported to be the main reason for unsuccessful fertilization. Although in 70% of the male factor infertility cases the etiology is recognizable, in the remaining 30% the reason is unknown and the male infertility is named idiopathic. In the current study, we selected 10 patients with idiopathic infertility, affected by azoospermia and oligoasthenoteratozoospermia. All patients were subjected to DNA analysis for deletions of the Y chromosome and cytogenetic analysis for chromosomal aberrations. After these analyses, the patients without such kind of abnormalities were further analyzed by microarray-based comparative genomic hybridization (array CGH). The cytogenetic analysis revealed two patients with chromosomal mutations?￠????inv (9)(p11;q13) and t(Y;9)(q12.3;q21.1). Two other patients were detected to have deletions of the AZFc region of the Y chromosome. Thus, we applied array CGH analysis for the six patients without chromosomal or Y-chromosome aberrations. Apart from the presence of known polymorphisms, we established copy number alteration in 17q12-17q21.2?￠????a region containing the gene for zona pellucida binding protein ZPBP2. This protein plays a crucial role for the proper spermatogenesis. Our results prompted for investigation of this gene and protein as a potential candidate for spermatogenic failure.