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. 2012 Dec 11;7(12):e50800. doi: 10.1371/journal.pone.0050800

Figure 2. RT-PCR analyses of BRCA1 exon 19 and flanking sequences.

Figure 2

A ) Compared with controls C (1) to C (5), the variants IVS18-2delA and IVS19+2T>G elevate exclusion of exon 19 (Δex19). Regarding the variant IVS18-2delA, two mRNA samples derived from two unrelated mutation carriers were analyzed. Effects of IVS18-6C>A on BRCA1 pre-mRNA processing were not observed. IVS19+1delG did not associate with a suspicious splicing pattern as shown by RT-PCR followed by gel electrophoresis. * Note that IVS19+1delG causes a 1 nt deletion on transcript level not detectable by agarose gel electrophoresis. B ) Direct sequencing of IVS19+1delG samples following RT-PCR revealed the deletion of the last nucleotide of exon 19 on mRNA level due to the activation of a cryptic splice site, which incorporates the last nucleotide of exon 19. NTC = no template control.