Figure 1

Methodology for mutation detection. Genomic DNA from the samples is amplified by PCR, resulting in copies of both mutant and wildtype alleles. Shrimp Alkaline Phosphatase removed excess nucleotides from the sample wells. Primer extension was performed using terminator nucleotides A, C, T, G, each with distinct masses. This linear amplification results in sequences proportional to the alleles that can be distinguished by mass spec (Maldi-Tof Separation).