Figure 5.

Southern-blot analysis. The probe of this experiment was ∼10 kb in size, covering the Q9H7K4 coding region. The DNA samples from the control individuals and patients (lane 1 = patient 1; lane 2 = control 1; lane 3 = patient 2; lane 4 = patient 3; lane 5 = control 2) were digested with restriction enzyme EcoRV, were separated on a 0.8% agarose gel, were transferred to nylon membrane, and were hybridized with a radio-labeled probe. In all DNA samples, fragments of ∼9 kb were detected, which suggests that there were no genomic rearrangements.