A Complex Rearrangement in the APC Gene Uncovered by Multiplex Ligation- Dependent Probe Amplification Constanze Pagenstecher, Dorothea Gadzicki, Dietlinde.

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A Complex Rearrangement in the APC Gene Uncovered by Multiplex Ligation- Dependent Probe Amplification Constanze Pagenstecher, Dorothea Gadzicki, Dietlinde Stienen, Siegfried Uhlhaas, Elisabeth Mangold, Nils Rahner, Mine Arslan- Kirchner, Peter Propping, Waltraut Friedl, Stefan Aretz The Journal of Molecular Diagnostics Volume 9, Issue 1, Pages 122-126 (February 2007) DOI: 10.2353/jmoldx.2007.060096 Copyright © 2007 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 1 Partial sequencing pattern of exon 4 and the inserted fragments. a: Normal sequence of APC exon 4. The sequence at the ligation site of MLPA probes for exon 4 (according to MRC Holland) is marked by a horizontal bar. b: Partial sequence of the mutant allele showing the breakpoint in exon 4 (arrow) and the sequence of the 5′ and 3′ end of the 119-bp insertion. c: Complete sequence of the 119-bp insertion in exon 4. The origin of the first 12 bp is unknown. The corresponding genomic origin of the other fragments is marked by horizontal arrows. The framed regions indicate the overlapping sequences at the ends of each fragment [one mismatched nucleotide (A) is shown in bold]. The Journal of Molecular Diagnostics 2007 9, 122-126DOI: (10.2353/jmoldx.2007.060096) Copyright © 2007 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 2 Diagram of the APC rearrangement in the family. The insertion of 119 bp is composed of a sequence of 12 bp of unknown origin (black box) and of three fragments derived from the APC gene, each in inverse direction: 21 bp originated from exon 4, 60 bp from intron 3, and 44 bp from intron 4 (with overlaps of 13 and 5 bp, respectively). The Journal of Molecular Diagnostics 2007 9, 122-126DOI: (10.2353/jmoldx.2007.060096) Copyright © 2007 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions