Fig. 2

A–E. Identification of five mutations and their transcriptional consequences by sequencing of the PPOX gene. (A) 78insC. Left normal genomic DNA. Center direct sequencing of a patient’s genomic DNA revealing the 78insC mutation; right sequencing of patient’s cDNA revealing the mutation. (B) IVS2-2 a→>c. Left direct sequencing of a patient’s genomic DNA; right sequencing of cDNA after subcloning reveals a retention of a 34-bp fragment of the 3′-end of intron 2 in the mutant transcript. (C) 338 G→C. Left direct sequencing of a patient’s genomic DNA; right sequencing of cDNA reveals deletion of exon 4. (D) 470 A→C. Left direct sequencing of a patient’s genomic DNA; right sequencing of cDNA demonstrates a deletion of exon 5 and a retention of a 20-bp fragment of the 3′-end of intron 5 in the mutant transcript. (E) 1203 A→C. Direct sequencing of a patient’s genomic DNA.