Figure 9

Real-time polymerase chain reaction analysis of our patient’s family and a normal control. Probe-adapted real-time PCR analysis using cycling probe technology led to the detection of a single nucleic acid polymorphism (SNP) in a target DNA sequence in our patient’s father and grandmother. For SNP typing, two cycling probes labeled with two different fluorescent dyes (6-carboxyfluorescein (FAM) or 6-carboxy-X-rhodamine (ROX)) were used, with each probe harboring ribonucleic acid (RNA) corresponding to the wild-type nucleotide or the nucleotide with a mutation at the SNP position. Expression analysis of our patient (A), her father (B) and her grandmother (C) shows a G→A transition of COL2A1 (c.1744G>A), while expression analysis of her mother (D) and a normal control (E) shows no mutation in the COL2A1 coding region.