1 / 3

normal ...CAG insertion GGA GGT ... GGA AAC TTT GCT ...

salome
Télécharger la présentation

normal ...CAG insertion GGA GGT ... GGA AAC TTT GCT ...

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  1. Supplementary Figure 1 – cDNA analysis reveals that three splice site alterations generate multiple RNA isoforms. (A) c.430-1G>C (IVS 6) results in 3 different isoforms: (1) retention of intron 5 and skipping of exon 7; (2) skipping of exon 7; (3) deletion of one nucleotide at the acceptor splice of exon 7 resulting in a frameshift. (B) c.3003+5G>A (IVS 43) results in 2 different isoforms: (1) skipping of exon 43; (2) aberrant splicing due to cryptic splice site in exon 43 with frameshift as a consequence. (C) c.4074+1G>T (IVS 52) results in 2 different isoforms: (1) skipping of exon 52 and part of exons 51 and 53; (2) aberrant splicing due to cryptic splice site in exon 52 with frameshift. exon 6 exon 8 exon 5 intron 5 intron 5 exon 6 (A) 1 & 2 normal ...CAG insertion GGA GGT ... GGA AAC TTT GCT ... mutant ...CAG gta...taa... cag GGA deletion AAC TTT GCT ... c.430-1G>C 4 7 8 5 6 exon number AC normal ... GGT GAA AAA GGT ... GGA AAC TTT GCT ... mutant ... GGT GAA AAA GTG ...TGG AAC TTT GCT ... GTA ATG exon 6 exon 7 (A) 3

  2. exon 42 exon 43 exon 44 (B) 1 normal ... GGT CCC TCT GGT GCC GAA ... GGT GAG CCC... mutant ... GGT CCC TCT deletion GGT GAG CCC ... c.3003+5G>A 41 42 43 44 exon number GTGAA normal ... CGT GGT GAG AGA GGA TTC CCT GGC TTG CCT GGC CCA TCG GGT GAG CCC… mutant ... CGT GGT GAG AGA GGA TTC CCT GGC TTG CCT GGC CCA TCG GG TGA GCC C… (B) 2

  3. (C) 1 normal ... CCC CTG CAG TAC ATG CGG GCC... ... .... CTG CTC ATC CAG mutant ... CCC CTG deletion CTC ATC CAG GGC TCC... c.4074+1G>T 49 50 51 52 53 exon number TT normal ... ATC TGG TTT ... GGC TTC CAT TTC AGC TAT GGA GAT GAC... mutant ... ATC TGT TCA GCT ATG GAG ATG ... AGA TGA... (C) 2

More Related