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. 2021 Jul 6;7(4):e608. doi: 10.1212/NXG.0000000000000608

Figure 1. Number and Instability of (CCCTCT)n Repeats in Blood and Different Brain Regions.

Figure 1

(A) Representative Southern blot image illustrating repeat number (RN) heterogeneity in the blood (lanes 1–6) and basal ganglia (lanes 7–12) of L-10322. Each lane represents 1 small-pool PCR reaction using DNA from the corresponding tissue as template. Custom-made size markers in lanes M1 and M2 show the sizes of alleles in RNs. Boxplots showing median RNs for (B) L-10322 and (C) L-7995 measured using Southern blotting (SB) and (D) L-7995 with Oxford Nanopore long-read sequencing after Cas9 enrichment (E) L-7995 measured with PCR amplification of the SVA and subsequent Oxford Nanopore deep long-read sequencing. Forest plots presenting repeat instability measured as the quartile coefficient of dispersion (QCD) in (F) L-10322 and (G) L-7995 based on SB and (H) L-7995 with Nanopore sequencing with Cas9 enrichment (I) L-7995 with Nanopore sequencing of PCR product. Parentheses indicate the number of bands or alleles measured for each tissue. Asterisks indicate significant differences between samples.