Array-CGH analysis in patients with maturation arrest of spermatogenesis

Introduction. The past decades, many studies have been performed aiming to identify genetic causes of maturation arrest of spermatogenesis (MA). However, these studies were rather disappointing. In the present study, we looked for the presence of copy number variations (CNVs) in patients with MA and controls with normal sperm parameters
Material and methods. CNVs were identified using 244K arrays in 9 patients. For regions of possible interest, more patients and especially larger groups of control men were investigated by qPCR.
Results. In the patient and control groups, on average 25±4 and 24±7 CNVs were detected, respectively. After elimination of regions that are not containing any known genes and regions that were also detected as CNVs in controls, 32 regions remained. A further reduction to nine regions was done by eliminating deletions that are completely intronic (fi in PRKG), regions that were recently amplified in evolution (f.i. BAGE and PNMA genes) and regions with a well-known function not involved in spermatogenesis. The remaining nine regions are being investigated by qPCR in order to investigate large numbers of controls (>100) and to conclude whether the observed CNVs are common or related to the fertility problems. Preliminary results show that at least some of the regions are exclusively detected in the patients.
Conclusions. In this study, a small group of patients with MA have been thoroughly investigated using array-CGH. No common region was detected in the patient group that was absent in control samples. Six promising regions will be further investigated.