Figure 2.
Results of SS, MC, and PS for a G12F mutation. A: SS demonstrated G to T transversions at positions 1 and 2 of codon 12. Arrows indicate the mutation. B: MC showed a Tm significantly lower than expected for a single mutation. Arrows indicate the mutation. C: PS generated a pyrogram that was flagged as abnormal, but the pattern could not be definitively interpreted with regard to the specific mutation subtype. D: A hypothetical PS pyrogram that would have resulted had the G to T transversions at positions 1 and 2 of codon 12 been on separate alleles.