Table 2.
The Results of SPMS Analysis of Steady-State PBGD mRNA Levels in AIP Patients
| Mutation | Isolated total RNA | Ratio of incorporated [3H]dNTP mutant allele/normal allele (±s.e.) | Mutant mRNA as a ratio of wild-type mRNA | Mean ±s.e. | |||||
| cDNA | genomic DNA | ||||||||
| 11/96 | 0.52 ± 0.007 | 0.97 | |||||||
| 517C → T | 2/92 | 0.33 ± 0.030 | 0.55 ± 0.0067 | 0.61 | 0.41 ± 0.20 | ||||
| 2/92 | 0.12 ± 0.053 | 0.21 | |||||||
| 2/97 | 0.34 ± 0.013 | 0.60 | |||||||
| 518G → A | 2/97 | 0.36 ± 0.0081 | 0.57 ± 0.020 | 0.64 | 0.66 ± 0.038 | ||||
| 12/96 | 0.42 ± 0.044 | 0.73 | |||||||
| 11/96 | 3.99 ± 0.089 | 0.82 | |||||||
| 673C → G | 2/92 | 4.28 ± 0.064 | 4.85 ± 0.27 | 0.88 | 0.81 ± 0.075 | ||||
| 2/92 | 3.54 ± 0.076 | 0.73 | |||||||
| 11/96 | 1.04 ± 0.041 | 0.24 | |||||||
| 673C → T | 2/97 | 0.88 ± 0.025 | 4.34 ± 0.20 | 0.20 | 0.22 ± 0.012 | ||||
| 2/97 | 1.02 ± 0.11 | 0.23 | |||||||
| 4/92 | 0.031 ± 0.010 | <0.05 | |||||||
| 713T → G | 4/92 | 0.012 ± 0.0021 | 0.72 ± 0.024 | <0.05 | |||||
| 11/96 | 0.51 ± 0.0049 | 0.72 | |||||||
| 1073delA | 5/94 | 0.12 ± 0.054 | 0.70 ± 0.017 | 0.17 | 0.27 ± 0.095 | ||||
| 5/94 | 0.25 ± 0.054 | 0.36 | |||||||











