Characterization of an Italian Founder Mutation in the RING-Finger Domain of BRCA1
Figure 3
Semi-quantitative fragment analysis of the Δexon5q isoform.
The upper panel shows the capillary electrophoresis patterns of the cDNA fragments spanning BRCA1 exons 5 and 6 observed in LCLs from a BRCA1 wild type individual, and from carriers of the c.190T>C and c.212G>A, which causes the up-regulation of the Δexon5q transcript, mutations. The Δexon5q and full-length (FL) isoforms are indicated. The lower panel shows the ratio between the peak areas of the Δexon5q and full-length isoforms. The LCLs were cultured in the presence (dark grey bars) and in the absence (light grey bar) of cycloheximide. Control bars represent the average value observed in six wild-type LCLs. c.190T>C bars represent the average value observed in four mutant LCLs. The error bars represent standard deviation.