Fig. 1: Repeat expansion motifs at RFC1 locus, flow chart, and result of genetic investigations and MRI scan. | npj Parkinson's Disease

Fig. 1: Repeat expansion motifs at RFC1 locus, flow chart, and result of genetic investigations and MRI scan.

From: Long-read sequencing revealed complex biallelic pentanucleotide repeat expansions in RFC1-related Parkinson’s disease

Fig. 1: Repeat expansion motifs at RFC1 locus, flow chart, and result of genetic investigations and MRI scan.

A Repeat expansion motifs at RFC1 locus. B Flow chart of this study. C The flanking PCR showed one large band in Patient 1 (P1) and an absence of product in Patient 2 (P2). C1–C3 were PD patients harboring small-band products. D MRI of Patient 1 and E MRI of Patient 2. F, G Sanger sequencing showed the (AAAAG)10 in C1 and (AGGGG)exp in Patient 1. H, I Electropherograms of RP-PCR showed that Patients 1 and 2 harbored the (AAGGG)exp. J The Integrative Genomics Viewer Snapshot of Patient 2 shows the target reads of long-read sequencing in RFC1. The number within the purple box indicates the insertion size. The red dashed box is the reference sequence of the (AAAAG) repeats in RFC1.

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