Normal splicing resulting from the c.1249A>T (Ile417Phe) mutation.

<p>(<b>A, B</b>) Schematic construction of pSpliceExpress reporter minigene containing exon 9, Wt and mutant, and their transcripted mRNAs. The position of the c.1249A>T (Ile417Phe) mutation is indicated with a star (on the right). The seven nucleotides around the mutation are indicated. A normal transcript generated by the mutant allele is shown. (<b>C</b>) Electrophoresis of RT-PCR products obtained after transfection in HeLa cells of normal allele, c.1249A (lane 2) and mutant allele, c.1249A>T (lane 3) revealed on 2% agarose gel. Samples were amplified using oligonucleotides complementary to exons 2 and 3 of insulin. The higher band in both cases of 380 bp corresponds to the normally spliced wt mRNA of the exon 9 with exons 2 and 3 of insulin (sequence not shown).