Fig. 3
From: Identification of deep intronic variants of PAH in phenylketonuria using full-length gene sequencing
Variant splice effects seen by minigene RT-PCR analysis. A The c.706+531T>C whild type minigene produced a major fragment (WT-A) and one low abundance fragments (WT-B), mutant minigene only produced a fragment (MT). Sanger sequencing showed that WT-B and MT include a 114-nt pseudo-exon upstream of exon 7. B The c.706+608A>C whild type minigene produced a major fragment (WT-A) and one low abundance fragments (WT-B), mutant minigene produced a major fragment (MT-B) and three low abundance fragments (MT-A, MT-C, MT-D). Sanger sequencing showed that WT-B and MT-B include a 114-nt pseudo-exon, MT-C includes a 313-nt pseudo-exon and MT-D includes a 647-nt pseudo-exon upstream of exon 7. RT-PCR, reverse transcription polymerase chain reaction