Fig. 2: Characterization of a novel MLH1 SV in patient #10. | npj Genomic Medicine

Fig. 2: Characterization of a novel MLH1 SV in patient #10.

From: Whole genome sequencing completes the molecular genetic testing workflow of patients with Lynch syndrome

Fig. 2

Pedigree of the proband (A). Visual representation of detected reads of exons 18 and 19 in the BAM file (B). MLPA analyses with default (P003-D1) and confirmation (P248-B2) probe sets, extended data can be found in Figure S1 (C). Electrophoretic separation of MLH1 cDNA amplicons on an Agilent Bioanalyzer DNA1000 chip (D). Arrows point to two additional cDNA transcripts. Note: Uncropped image is demonstrated in Figure S2. Visual representation of the architecture of the two additional cDNA transcripts detected with Sanger sequencing (E). Genomic architecture of the detected SV compared to the reference gDNA (F). Breakpoint-specific PCR primers are visualized as red arrows binding at sequence complementary regions. Primers oriented outwards in the reference genome get face each other only at the duplication breakpoint. Electrophoretic separation of breakpoint-specific PCR products on 1.5% agarose gel (G) performed on germline DNA sample of the proband (a), her mother (b), her sister (c) and two independent controls. Note: a, b and c individuals are highlighted also in Panel A. Note: Uncropped image is demonstrated in Figure S3. Chromatogram visualizing the breakpoint (vertical brown line) included in the breakpoint-specific PCR (H). PCR polymerase chain reaction, L ladder.

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