Figure 1.
RFLP electrophoresis patterns of common CYP1B1 mutations of Iranian PCG patients. A: g.3987G>A; B: g.7940G>A; C: g.8006G>A; D: g.8242C>T. SM, size markers; NN, homozygous normal; MM, homozygous mutant; MN, heterozygous; −, undigested PCR product. PCR amplicon of exon 2 (primers 2aF and 2aR) was digested for detection of mutation G61E and PCR amplicon of exon 3 for detection of the other three common mutations. TaqI digestion of normal and G61E mutated exon 2 amplicons produces 70- and 75-bp fragments that migrate out of the gel. Likewise, BccI digestion of normal and R368H mutated exon 3 amplicons produces a 23-bp fragment that also migrates out of the gel.