p.Y329S

1. 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 p.Y329S Allows good DNA amplification ? 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 ? Due to unknown sequence DNA amplification is not possible In molecular biology, to study a mutation or genetic change requires PCR amplification of the DNA. DNA amplification is only possible by primers located on both sides of the are of interest shown by black arrows in the figure top panel (illustrates the complementary DNA with p.Y329S mutation and the location of primers that can amplify the region for the test of p.Y329S mutation). The scheme below shows the complementary DNA with the second mutation. Second mutation changes the exon 16 sequence. Since we don’t know the sequence (indicated by red line) we cannot prime it (red arrow) therefore prevents the amplification of the region by PCR. This was the reason why this mutation has not been identified previously. Why it is pathogenic? Because new exon 16 or as we call it pseudo exon 16 prevents the stability and function of the glycogen branching enzyme.