Figure 5
Patients with FIBGC who presented with PDGFRB splicing site variant. (a) (Case 1) Splicing patterns of PDGFB mRNA with a splicing site variant. mRNA from the patients’ blood was reverse transcribed, and cDNA sequences between exons 2 and 3 (including c.160 + 2T > A) were amplified via polymerase chain reaction (PCR). (b) (Case 1) Sequence of PDGFB mRNA with intron sequence that was removed. PCR products were purified and sequenced. Uppercase and lowercase letters indicate exon and intron sequences, respectively. The boxes represent differentially spliced exons. The boldface in red indicates the splice site variant (c.160 + 2T > A). (c) (Case 2) Splicing patterns of PDGFB mRNA with splice site variant. The mRNA from the patients’ blood was reverse transcribed, and the cDNA sequences between exons 4 and 6 (including c.457−1G > T) were amplified via PCR. The sequence of PDGFB mRNA with intron sequence that was removed. PCR products were purified and sequenced. The upper bands indicate the wild-type products, and the lower bands indicate the variant products that lack exon 5. The exon 5 was removed from PDGFB mRNA.
