Figure 5. Identification of a novel heterozygous deletion containing the SAG exon 2 in the patient with Oguchi’s disease. A: Schematic representation of the identification of the intragenic deletion containing SAG exon 2 with the translation start site (ATG). Top: the location of primer pairs (In1, In2–1, In2–2, In2–3, In2–4, and In2–5) used in the quantitative PCR for fine mapping the breakpoints of the deletion in the region between intron 1 and exon 3. The deleted part of the SAG gene is shown with the dashed line. Bottom: the location of the primer pairs (In1-F and In2–4-R) used in long-range PCR. Boxes are exons with the coding region indicated in black and the 5′-untranslated region in white. The exons and introns are not drawn to scale. B: Gel analysis of the long-range PCR products. C: Chromatograms showing the breakpoints of the intragenic deletion.