Fig. 5. Validation studies of aberrant splicing in AUP1, PVRL2, and GRIK5 specific transcripts.

Validation of aberrant alternative splicing (AS) of AUP1 transcript (NM_181575) in 4 MDS patients was performed by PCR of cDNA. An obvious additional band around 204 bp of AUP1 specific-gene transcript was noted at samples from MDS patients compared with normal control donors (a). TA cloning and direct sequencing of the amplified cDNA collected from the canonical splicing 97 bp band (b) and the additional aberrant splicing 204 bp band from the MDS patient (c and d) successfully verified the aberrant intron retention between exon 9 and 10 in this gene. RT-PCR of PVRL2 (e) and GRIK5 (f) verified the aberrantly spliced transcripts (NM_001042724) and (NM_002088) respectively noted at HTA 2.0