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. 2023 Jul 14;146(12):5060–5069. doi: 10.1093/brain/awad240

Figure 3.

Figure 3

A shared ancestral haplotype in patients with pathogenic RFC1 motifs. Graphical representation of the haplotypes associated with AAGGG, ACAGG and novel pathogenic repeat motifs identified in this study. For each single nucleotide polymorphism, the reference allele is represented in blue, while the alternative allele is represented in yellow. The repeat expansion locus is marked with a red line (R). There is a shared region (B–C, -rs2066782-rs6851075, chr4:39302305–39366034, hg38) of 66 kb for all novel configurations. A larger region of 207 kb (A–C, rs148316325- rs6851075, chr4:39158847–39366034, hg38), which is flanked by two recombination hotspots (arrows), is also shared among all but one allele for Case III-1, suggesting a recombination event at B (rs2066782) in this family. The shared haplotype lies in a region of low recombination rate (HapMap data) and is delimited by small peaks at A and C. A smaller increase in the recombination rate is also visible at B. hom = homozygous.