Figure 1.

Genotyping assays to characterize the C9orf72 region and G₄C₂ repeat. The C9orf72 G₄C₂ repeat (yellow box) is located upstream of the first exon of isoform NM_018325.3 (dark blue arrow) and adjacent to a GC-rich low-complexity sequence (LCS; light grey box) with their nucleotide sequences shown above. The sequence of the recurrent 10-bp deletion g.26747_26756delGTGGTCGGGG (Table 4, Supp. Figure S1), we observed in the LCS, is indicated in blue. Below the sequence, the primers with their corresponding PCR amplicons are shown for each of the PCR genotyping assays: STR-PCR in pink, forward RP-PCR in green, reverse RP-PCR in red and RP-PCR for sequencing in blue.