Skip to main content
Figure 1 | BMC Medical Genetics

Figure 1

From: A novel SYBR-based duplex qPCR for the detection of gene dosage: detection of an APC large deletion in a familial adenomatous polyposis patient with an unusual phenotype

Figure 1

Missense mutation and deletion of the  APC  gene in one FAP patient. A: Chromatogram of the novel missense variant c.6965A > G p.Gln2322Arg in APC exon 15 apparently in homozygosis. B: Melt curve of duplex qPCR of APC exon 15 and GAPDH intron 7 (reference gene) – PMc ratio of APC/GAPDH in the control sample was 1.4 and in the FAP patient it was 0.86, leading to a normalized PMc ratio of 0.61 for the FAP patient, indicating the presence of deletion. C: aCGH chromosome 5 profile of the FAP patient showing a 5.2 Mb deletion at 5q21.3-q22.3 that encompasses the entire APC sequence (red circle) and 19 additional genes.

Back to article page

BMC Medical Genetics

ISSN: 1471-2350

Contact us