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. 2009 Mar;11(2):131–139. doi: 10.2353/jmoldx.2009.080129

Figure 4.

Figure 4

Characterization of variant c.1548G>A in exon 11 of the APC gene (patient 5). A: Sequencing pattern of genomic DNA reveals the heterozygous substitution G>A, arrows, in the index patient but not in his affected father. B: Agarose gel showing the RT-PCR product obtained with primers localized in exon 9F and in exon 13R (P) and a control (C). C: Sequencing pattern of the 290-bp and 430-bp fragments excised from the gel showing the deletion of exon 11 in the short fragment and the complete lack of the mutant allele in the full-length fragment. Arrow indicates the position of the mutation. D: Haplotype analysis in family 5 shows that the mutation in the index patient occurred in the paternal haplotype. T, C, the two alleles of the SNP at nucleotide position 1458 (codon 486); Mut, mutation (G>A, arrow) at nucleotide position 1548; and n, normal sequence (G). E: Schematic diagram representing the mutation in genomic DNA and the aberrant splicing variant detected by RT-PCR leading to a premature stop codon. Arrows indicate primer positions, arrowhead indicates location of the G>A mutation.