Genetic screening of infertile men

Abstract

Male infertility is an extraordinarily common medical condition, affecting 1 in 20 men. According to the World Health Organization, this condition is now considered to be a complex disease involving physical, genetic and environmental factors. With continuing advances in our understanding of male reproductive physiology and endocrinology, together with the availability of the complete sequence of the human genome and powerful functional genomic techniques, the stage is now set to identify the genes that are essential for spermatogenesis. Given that the process of spermatogenesis, from the germ cell to mature sperm, is complex, the challenge for research is to develop the strategies for identifying new genetic causes of idiopathic male infertility and defining genotypes associated with specific defects in semen parameters and testicular pathologies. Such information will form the basis of new genetic tests that will allow the clinician to make an accurate diagnosis of the male partner and a more informed decision about treatment options for the couple.

Analysis of balanced reciprocal translocations in patients with subfertility using single-molecule optical mapping

“…Infertility is a complex disease caused by physical, genetic, and environmental factors [25]. While numerous genetic causes have been identified in the male [26,27], chromosome translocations represent a unique type of genetic abnormality that has been associated with both male and female infertilities or subfertilities, affecting approximately 1% of carriers [28]. We therefore postulated that translocation structural variations at the breakpoint regions may potentially perturb important genes required for normal fertility, reducing reproductive potential and the chance of achieving pregnancy.…”