Figure FIG. 2.

Identification of mutations by PNA‐inhibited amplification (A‐C, 3′‐5′ strand sequenced) and direct DNA sequencing (D‐F, 5′‐3′ strand sequenced) (MW, molecular weight markers; +CON, positive control [DNA isolated from a mutant clone]; −CON, negative control [DNA isolated from a normal clone]). In some cultures of BMSCs derived from affected tissue, mutation (in this case, R201H) could be detected by both methods (A and D). In other cultures of BMSCs derived from affected tissue, mutation was detectable by PNA‐inhibited amplification (in this case, R201C) (B), but no mutation was found by direct DNA sequencing (E). BMSCs were also derived from clinically defined normal bone. In some cases, mutation was detected by PNA‐inhibited amplification (C), but no mutation was detected by direct DNA sequencing (F).