Table 3.
The Solid-Phase Minisequencing Analysis of Steady-State mRNA Levels in Three Subjects with the Mutation 673C → T in the PBGD Gene
| Sample | Normal allele, incorporated [3H]dGTP (cpm ±s.e.) | Mutant allele, incorporated [3H]dATP (cpm ±s.e.) | Ratio mutant allele/ normalallele | Mean ratio ± s.e. | Mutant mRNA as a ratio of wild-type mRNA |
| Patient 1 | 465 ± 35 | 510 ± 20 | 1.10 | ||
| mild symptoms | 527 ± 25 | 517 ± 13 | 0.98 | ||
| 516 ± 11 | 472 ± 15 | 0.92 | 1.04 ± 0.042 | 0.24 | |
| 422 ± 35 | 458 ± 14 | 1.09 | |||
| 437 ± 53 | 499 ± 11 | 1.14 | |||
| Patient 2 | 556 ± 49 | 511 ± 19 | 0.92 | ||
| acute attacks | 501 ± 77 | 469 ± 16 | 0.94 | ||
| 511 ± 24 | 453 ± 23 | 0.89 | 0.88 ± 0.025 | 0.20 | |
| 588 ± 21 | 484 ± 17 | 0.82 | |||
| 638 ± 6 | 518 ± 7 | 0.81 | |||
| Patient 3 | 687 ± 20 | 769 ± 27 | 1.12 | ||
| symptom-free | 561 ± 11 | 784 ± 13 | 1.40 | ||
| 580 ± 27 | 500 ± 38 | 0.86 | 1.02 ± 0.11 | 0.23 | |
| 512 ± 21 | 450 ± 12 | 0.88 | |||
| 663 ± 22 | 556 ± 19 | 0.84 | |||
| Patient 1 | 332 ± 12 | 1205 ± 36 | 3.63 | ||
| genomic DNA | 275 ± 18 | 1208 ± 84 | 4.39 | ||
| 311 ± 10 | 1379 ± 52 | 4.44 | 4.34 ± 0.20 | 1.00 | |
| 291 ± 3 | 1286 ± 45 | 4.43 | |||
| 305 ± 8 | 1469 ± 80 | 4.82 | |||
| healthy subject DNA | 730 ± 46 | 16 ± 3 | 0.022 | 0.01 | |
| RT–PCR–H2O | 74 ± 2 | 17 ± 1 | |||
| PCR–H2O | 19 ± 2 | 12 ± 1 | |||
| H2O | 14 ± 1 | 12 ± 1 |
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↵Values have been corrected for background radioactivity of the corresponding blank controls (RT–PCR–H2O or PCR–H2O).
