Figure 1.

Pedigree of a Diamond-Blackfan anemia family with RPS15A mutation. (A) Each electropherogram indicates the gDNA sequence including the boundary between the third exon and IVS-3 of the RPS15A gene. Red arrows indicate the position of nucleotide substitution c.213G>A. (B) Reverse-transcriptase polymerase reaction (RT-PCR) analysis using the primer set located on the second and fourth exons of the RPS15A gene. Arrows indicate PCR products for the full-length variant and alternative splicing form lacking the third exon of RPS15A. Both transcripts were expressed only in the affected family members.