Fig. 3
From: Identification of diagnostic challenges in RP1 Alu insertion and strategies for overcoming them

Discrimination of mutant alleles for AluY and c.4196del in RP1. (a) Schematic diagram of allele-specific PCR design and expected product size depending on cis or trans status of AluY and c.4196del. (b) A DNA fragment containing the AluY insertion was distinguished from a fragment not containing the AluY insertion by size (approximately 600Â bp vs. 300Â bp) and was positioned in trans with c.4196del. The samples were derived from the same experiment and gels were processed in parallel. The original gel image is in Supplementary Figure S1.