Testicular gene expression profiles in infertile patients with AZFc deletions of the Y chromosome

In the present study we carried out testicular gene expression profiling of patients with AZFc microdeletion, idiopathic infertility and normal spermatogenesis, in order to identify up- and downregulated genes in the different conditions, and to verify the presence of specific molecular pathways leading to the spermatogenic damage in patients with AZFc deletions. All samples of patients with AZFc deletion clustered together, showing downregulation of several genes related to spermatogenesis. In this study, we analyzed testis expression profiles of 16 patients with different phenotypes, including men with AZFc deletions and men with idiopathic infertility. All pathological human testis RNAs were hybridized against normal testis reference RNA samples (obstructive azoospermia), while the three samples with normal spermatogenesis were hybridized against a control represented by an home-made RNA universal reference consisting of a commercial human purified tissue RNA pool (brain, liver, muscle and lung) (Clontech, Terra Bella, CA, USA) . These latter hybridizations were carried out in order to generate a profile of genes specifically expressed in normal testis.