RHCE gene mutation and transcripts in patient DAA. The invariant g residue at the donor splice-site in intron 4 is mutated to t. The three cryptic splice-sites are indicated by open arrowheads. The schematic representation of the exons 3 to 6 (E) and introns in the mutated gene is shown (not to scale), as well as those of the amplified regions (see text) of 5 different transcripts (t1 through t5). The first 16 and 11 nucleotides of intron 4 (hatched boxes) were included in t1 and t2/t3 transcripts, respectively. The 6 and 4 amino acid residues inserted in the corresponding predicted proteins are indicated. The smaller transcript, t4, resulted from the skipping of both exons 4 and 5 nucleotide regions. Transcript t5 differs from the normal RhCE cDNA only by the deletion of the last G nucleotide of exon 4. The approximate positions of stop codons in t2 and t5 transcript are indicated by stars.