Steady-State Transcript Levels of the Porphobilinogen Deaminase Gene in Patients with Acute Intermittent Porphyria

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
  • Month and year of the isolation of total RNA.

  • Mean values of five estimates.

  • Mean value has been calculated from samples of the same duration of storage

This Article

  1. Genome Res. 7: 1054-1060

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