Figure 4

Detection and analysis of an aberrant transcript. 4a: Separation of FGF10 RT-PCR amplificates using sensitive silver-stained polyacrylamid gels reveals additional fragments for the patient's samples but not for control samples. Upper panel, Amplification of the FGF10 transcript using oligonucleotides designed to amplify exon 1 to exon 3 sequences; Lower panel, Amplification of the FGF10 transcript using oligonucleotides designed to amplify exon 2 to exon 3 sequences. C: control; P: patient. 4b: Sequence analysis of the excised and re-amplified additional exon 1/exon 3 fragment. The c.430-1, G > A aberration results in the use of an alternative splice acceptor site 127 bp upstream of exon 3. 4c: Putative effect of the 127 bp insertion on protein translation.