GENOMIC STUDY IN PATIENTS WITH IDIOPATHIC MALE INFERTILITY

Infertility in 40% of the couples is due only to reasons, pertaining to the man, with the main reason in 70% of cases being detectable, but in the remaining 30% unknown and the latter are considered idiopathic. We analyzed the genome disbalances in 16 blood samples of men with an idiopathic oligoasthenoteratozoospermia or azoospermia using Comparative genome hybridization (CGH) combined with microchips for the whole human genome. In this study we have matched the deletions in a few affected autosomal loci: in two patients in the same area in the 8 chromosome, in 5 patients in the 14 chromosome, as well as in 2 patients in the 17 chromosome. Two genes of the deleted region in the 8 chromosome (SPAG11B and SPAG11A) are associated with stages of spermatogenesis and in particular formation and maturation of the spermatozoa and fertilization. Deletion in chr.14q11.2 (EDDM3A and EDDM3B) affected the proteins that are synthesized and secreted by epididymal epithelial cells that have been found up-regulated in epididymides of nonobstructive azoospermic men. Deletion in chr.17q21.31, observed in two patients, examined by us, affects a region, containing testes-specific apoptosis-related gene, (Homo sapiens, TTLL6) and causes distortions in its structure and function. TTL.6 is expressed in testis and involved in apoptosis. It is important for sexual differentiation, spermatogenesis, and male fertility. Our results displayed the significance of CGH on DNA microarrays of cells from peripheral blood of patients with idiopathic male infertility as an extremely important method for high-resolution detection of genomic imbalances in the entire genome.