Verification of the RBMX2 330bp Alu deletion using PCR and Sanger Sequencing.

(a) A schematic overview of the allele specific primer design. (b) An agarose gel image with two allele specific PCRs (a reference allele, 1215bp, and a 330bp deletion allele) were performed for each of the sixteen samples. Numbers colored with red are PCR reactions with RBMX2_F and RBMX2_Rref primers (a reference allele) and with blue RBMX2_F and RBMX2_Rdel (a deletion allele), respectively. L = 1kbp Ladder (ThermoFisher Scientific, CA, USA), 1–2: female sample 693, 3–4: female sample 688, 5–6: male sample 700, 7–8: male sample 685, 9–10: female sample 694, 11–12: male sample 697, 13–14: female sample 687, 15–16: male sample 686, 17–18: female sample 695, 19–20: male sample 691, 21–22: male sample 689, 23–24: male sample 692, 25–26: female sample 699, 27–28: male sample 698, 29–30: male sample 690, 31–32: male sample 696, 33–34: Negative PCR controls. On the top row the sample ID numbers are listed in green with the corresponding well numbers on the agarose gel image. Below, the reference allele is marked in red and the deletion allele in blue.