V.P. Stus, L.I. Padalko, M.Y. Polion

AZF-deletion – one of the genetic causes of male infertility

The possibility of investigating the causes of infertility in men increased significantly thanks to the human genome, the sequencing of the Y-chromosome, and the introduction of modern molecular techniques in medical practice. We conducted a survey of 80 men with idiopathic infertility, which included clinical and urological examination: complete blood count, urinalysis, Wassermann, blood sugar, blood biochemical examination, hormonal examination (testosterone, LH, FSH, prolactin), karyotyping, ultrasound examination of the scrotum and prostate, microscopic and bacteriological examination of ejaculate, a study on sexually transmitted infections.

68 patients with the concentration of sperm in the ejaculate <5*106/ml conducted a genetic blood test for the presence of deletions in the AZF locus Y-chromosome. Isolation and purification of DNA from whole venous blood passes through a standard method of precipitation of nucleic acids. For the analysis of the variations of the gene regions of AZF deletions specific DNA amplification was carried out in vitro. In the study group (68 patients) in the locus AZF deletions were detected in 6 patients (8.8%).

According to the world of literature and the results of his observations is obvious need for research azoospermia factor for all men with azoospermia/oligozoospermia severe.