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. 2017 Aug 24;8(9):210. doi: 10.3390/genes8090210

Figure 6.

Figure 6

Quantitative polymerase chain reaction (qPCR) analysis of the CACNA2D4 sequence with a large heterozygous deletion in pedigree RF.L.11.10. (A) Region spanning a 30 kb heterozygous deletion (Chr12: 1,949,399–1,980,050) observed in CACNA2D4 gene in patient II:6 in pedigree RF.L11.10. This deletion includes 8 exons (exon 19 to exon 26) of the CACNA2D4 gene; (B) qPCR of exons 19, 21 and 26 of CACNA2D4 indicated the presence of two wild type alleles of CACNA2D4 in II:2, II:3 and II:4; and a single copy of CACNA2D4 exon 19, 21 and 26 in II:6. The qRT-PCR was normalized to two reference genes, GPR15 and ZNF80 and Control human genomic DNA was used as calibration control (Cal) to determine the copy number of each allele present in the test samples. * p < 0.05; ** p < 0.01.