Figure 3From: Multiple splice defects in ABCA1cause low HDL-C in a family with Hypoalphalipoproteinemia and premature coronary disease Normal splicing of exon 32 is illustrated in the top portion of the figure. Schematic representation of exon 32 skipping is shown at the lower portion. A 16% acrylamide gel run of the PCR products from cDNA shows the normal splice product of 405 base-pairs and a splice variant band of 310 base-pairs that results in the addition of 8 amino acids followed by a stop codon. The predicted protein size is 1496 amino acids compared to normal (2261 amino acids). Lane 1 (control), Lane 2 (proband). Note the constitutive splicing in control lane as well as affected. Referent 50 base-pair ladder is shown in lane 3. Sequence of aberrant splicing shown at bottom of figure.Back to article page