Figure 2 | Human Genome Variation

Figure 2

From: A novel mutation in the β-spectrin gene causes the activation of a cryptic 5′-splice site and the creation of a de novo 3′-splice site

Figure 2

cDNA analysis. (a) After RT–PCR with primers localized in exons 12 and 14, two bands of 1,065 and 576 bp were observed in the sample of the propositus (p) and her mother (m). The abnormal band was absent in the control (c). (b) cDNA sequencing shows that the final 16 nucleotides of exon 12 and the first 473 nucleotides of exon 13 were spliced out. As a result, the proband and her mother present a shortened mutant cDNA and a WT cDNA. (c) Schematic diagram showing the effect of the c.1795+1G>A mutation on SPTB mRNA. WT, wild type.

Back to article page