Figure 2

Capillary electrophoresis (CE) results of restriction fragments of 3 variants. a, c, e and b, d, f are the electropherograms and gel-views of IVS9, P268S, and G2385R after restriction digestion, respectively. The green arrows indicate markers (20 bp, 1000 bp) and black arrows indicate the restriction fragments. Restriction fragment sizes are shown in the Table 1: No mutation (wild-type/negative control), 2: Negative results in the control group, 3: Positive results (heterozygote) in the case group, 4: Homozygous mutation (homozygote/positive control). Because the signals are too strong for IVS9-4, P268S-1, P268S-2, G2385R-1, and G2385-2, 10 times markers are used to enhance the signal.