Figure 3.

Genetic variants identified in RHOX genes in men with severe oligozoospermia. (A) Location of identified variants within RHOX gene structure. The homeodomain is shown in black, mutations are marked with red arrows and SNPs with grey arrows. (B) Chromatograms obtained from Sanger sequencing validate the mutations found by IonTorrent sequencing. For RHOXF1 c.515G > A and c.522C > T wild type sequence (left) and mutated sequence (right) are shown. In case of mutations -73C > G, c.202G > A, c.411C > T, and c.679G > A only one of the two RHOXF2 copies is affected resulting in a double peak at these positions. N = ambiguous call.