Fig. 3.
Instability of the mutant mRNA. To address the stability of the mutant mRNA, we took advantage of the abrogation or creation of restriction sites by the point mutations. In this example (Sp Ostrava or 699delT), we took advantage of the PvuII restriction site abrogated by the mutation. Note the contrast between the heterozygous pattern of the genomic DNA and the homozygous pattern of the cDNA for the PvuII site in the patient's sample, suggesting the absence of one of the two transcriptional messages.