Table 1. MPL allele frequencies determined using DARMS-PCR and deep sequencing.
MPLW515L allele frequency (%)* | MPLW515K allele frequency (%)* | ||||
MPL allele | Patientno. | DARMS-PCR | Deep sequencing | DARMS-PCR | Deep sequencing |
MPLW515L | 146 | 77.8 | 79.0 | N.D. | 0.0 |
177 | 84.1 | 88.4 | 1.8 | 0.0 | |
526 | 24.7 | 17.1 | N.D. | 0.2 | |
748 | 33.4 | 43.7 | N.D. | 0.0 | |
782 | 19.4 | 47.4 | 0.9 | 0.0 | |
830 | 9.7 | 15.4 | 0.4 | 0.0 | |
MPLW515L/K | 127 | N.D. | 2.5 | 36.3 | 50.7 |
MPLW515K | 120 | N.D. | 0.1 | N.D. | 1.0 |
193 | N.D. | 0.1 | 22.2 | 33.6 | |
205 | N.D. | 0.1 | 45.4 | 35.0 | |
Wild-type MPL | 6 | N.D. | 0.0 | N.D. | 0.0 |
50 | N.D. | 0.0 | N.D. | 0.1 | |
158 | 1.8 | 0.2 | N.D. | 0.0 | |
160 | N.D. | 0.0 | 0.5 | 0.0 | |
176 | N.D. | 0.6 | N.D. | 0.0 | |
185 | N.D. | 0.3 | 0.8 | 0.0 | |
199 | N.D. | 0.0 | 0.6 | 0.5 | |
607 | 0.7 | 0.0 | N.D. | 0.0 | |
688 | 1.0 | 0.1 | N.D. | 0.0 | |
710 | N.D. | 0.2 | 0.4 | 0.0 |
*Allele frequencies below 1%, as determined using deep sequencing, were defined as negative for the assessed mutation. Note that allele frequencies below 5%, as determined using DARMS-PCR, were also defined as negative based on the results in Figure 3. N.D.: the corresponding peak was not detected.