Skip to main content
Fig. 3 | BMC Genomics

Fig. 3

From: Accurate diagnosis of spinal muscular atrophy and 22q11.2 deletion syndrome using limited deoxynucleotide triphosphates and high-resolution melting

Fig. 3

22q11.2 region copy number determination by restricted dNTPs and multiplex PCR. Blinded tests for a CLTCL1, b PI4KA/KLHL22 are shown. Samples were normalized to the CFTR gene. Two copies (Black) and one copy (red) of target genes were well distinguished after normalization against the reference. The green signal in Fig. 3b showed a sample with two copies of PI4KA gene and one copy of KLHL22 gene. −dF/dT, signifies the negative first derivative of fluorescence with respect to temperature

Back to article page

BMC Genomics

ISSN: 1471-2164

Contact us