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. Author manuscript; available in PMC: 2020 Jun 29.
Published in final edited form as: Circ Genom Precis Med. 2020 Mar 12;13(3):e002783. doi: 10.1161/CIRCGEN.119.002783

Figure 2.

Figure 2.

RNA studies MYBPC3 c.1224–52G>A variant. Panel A: Gel-fractionation of RT-PCR products of lymphocyte-derived RNA from two affected individuals heterozygous for the MYBPC3 c.1224–52A>G. Affected individuals in lanes 2 and 4 (corresponding reverse transcriptase negative controls in lanes 3 and 5) and controls in lanes 6, and 8 (corresponding reverse transcriptase negative controls in lanes 7 and 9). Blue arrow corresponds with normal fragment (323bp), as seen in controls, and the red arrow corresponds to the aberrant fragment (375bp). A 100 base pair ladder was used in lanes 1 and 11 (500bp [dense band], 400bp and 300bp bands shown). Panels B and C: Sanger sequencing of wild type (Panel B) and aberrant PCR product derived from cDNA of an affected individual harbouring MYBPC3 c.1224–52A>G (Panel C), indicates a 50 nucleotide intronic inclusion, confirming in silico splice site predictions.