Figure 4. Relative quantity (RQ) value and standard deviation calculated from the data of quantitative real-time PCRs for detecting possible heterozygous deletions/duplications in the SAG exons in the patient and her father. An RQ value of about 1.0, 0.5, or 1.5 indicates the diploid genotype, heterozygous deletion, or heterozygous duplication, respectively. A: Identification of a heterozygous deletion encompassing the SAG exon 2 in the patient and her father. B: Validation and fine-mapping the deletion using the primers of In1, In2–1, In2–2, In2–3, In2–4, and In2–5 located in intron 1 and intron 2. The heterozygous deletion involved In2–1, In2–2, and In2–3. Data were based on two independent experiments. E, Exon; In, Intron. The error bar represents the standard deviation.