Skip to main content
. 2020 Mar 12;13(3):e002783. doi: 10.1161/CIRCGEN.119.002783

Figure 2.

Figure 2.

RNA studies MYBPC3 c.1224-52G>A variant. A, Gel fractionation of RT-PCR products of lymphocyte-derived RNA from 2 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 (323 bp), as seen in controls, and the red arrow corresponds to the aberrant fragment (375 bp). A 100 base pair ladder was used in lanes 1 and 11 (500 bp [dense band], 400 bp, and 300 bp bands shown). B and C, Sanger sequencing of wild-type (B) and aberrant polymerase chain reaction product derived from cDNA of an affected individual harboring MYBPC3 c.1224-52A>G (C) indicates a 50-nucleotide intronic inclusion, confirming in silico splice site predictions.