Fig. 1: Detection of (AAGGG)exp in RFC1.
From: Biallelic expansion in RFC1 as a rare cause of Parkinson’s disease
a Multiplex PCR of RFC1 and FBN1 shows no RFC1 PCR product in the region of interest in the three patients with PD (P1-P3) or CANVAS. The gel derives from the same experiment. b XL-PCR amplification of RFC1 carried out with Phire II Hot Start DNA polymerase. Lanes 1–4, healthy controls with normal fragment size variation; lanes 5–7, patients 1–3; lane 8, patient with CANVAS and biallelic (AAGGG)exp; lane 9, H2O. The gel derives from the same experiment. c Electropherogram resulting from repeat-primed PCR of patient 1 harboring the biallelic (AAGGG)exp and a control without the expansion.
