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. 2001 May 15;68(6):1506–1513. doi: 10.1086/320597

Figure 1.

Figure 1

The relative abundance of mRNAs that carry premature termination codon. Top, Analysis of genomic DNA. Restriction-site analysis shows fragments of 122 bp, in the case of a T allele in position 699, and of 92 bp, if the C allele is present. The undigested 304-bp PCR products that contain a control RsaI are not shown. Lanes 1 and 9, Molecular-weight markers. Lane 2, Patient 4 [IVS7+1G→A; c.699C]/[IVS11−2A→C; and c.699T]. Lane 3, Patient 6 [c.1226G→A; c.699T ]/[IVS11−2A→C; c.699C]. Lane 4, Patient 9 [c.19_20insC; c.699C]/[IVS11−2A→C; c.699T]. Lane 5, Patient 10 [IVS1−1G→C; c.699C]/[c.28_29delG; c.699T]. Lane 6, Wild-type control c.699C/C. Lane 7, Wild-type control c.699T/T. Lane 8, Wild-type control c.699C/T. Bottom, RT-PCR/RFLP analysis of total fibroblast RNA. The presence of T and C in position 699 is signified by the 280-bp and 248-bp fragments, respectively. The uncut PCR products of 392 bp that contain a control RsaI are not shown. The lanes contain samples identical to those in top panel. The absence of a fragment signifying the C allele in lane 2 demonstrates that the mRNA that carries the c.828_931ins104 (IVS7+1G→A) is not present in the RNA preparation. Similarly, the absence of the T allele in lane 3 shows the virtual absence of the mRNA molecules carrying the c.1226G→A (W409X).