Fig. 2: Copy-number variants (CNVs) characterized with quantitative polymerase chain reaction (qPCR) and PCR amplification. | Genetics in Medicine

Fig. 2: Copy-number variants (CNVs) characterized with quantitative polymerase chain reaction (qPCR) and PCR amplification.

From: Characterization of clinically relevant copy-number variants from exomes of patients with inherited heart disease and unexplained sudden cardiac death

Fig. 2

Upper panels show qPCR of segments within and flanking (a) an ACTN2 deletion in patient AHM1 and (b) a partial duplication of MYH6 and MYH7 in patient AYQ1. Relative DNA copy number is shown for an exon of GAPDH (black bars), exons flanking the CNVs (green bars) and exons within the CNVs (red bars). Sanger sequencing electropherograms across the ACTN2 deletion breakpoint (a, central panel) and alignments of breakpoint junctions in the reference sequence (a, lower panel) are shown with region of microhomology in stippled boxes. Proposed mechanism of nonallelic homologous recombination between misaligned duplicated segment of MYH6 and MYH7 (black boxes), with resulting duplicated segment in stippled box (b, lower panel).

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