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Figure 3 | BMC Medical Genetics

Figure 3

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 3

Sensitivity of the duplex qPCR. The sensitivity of this methodology was investigated by mixing different DNA proportions of the deleted patient and a healthy control. A: First panel presents the melting curve of the five different DNA proportions used (described in the first line of the table); second and third line show the gene dosage ratio between APC and GAPDH present in each mixed DNA solution and the respective expected normalized PMc ratio; last line presents mean and standard deviation (SD) of the observed normalized PMc ratio duplicates. The results demonstrated that this approach could detect gene dosage alterations even when only 25% of the DNA carried the heterozygous gene deletion (proportion 4 = 1 P : 3 C). B: Linear regression of the observed normalized PMc ratio in relation to the expected PMc ratio, demonstrating an r² of 0.957.

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BMC Medical Genetics

ISSN: 1471-2350

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