Figure 2

Identification of a patient with GGGGCC repeat expansion in both alleles of the C9ORF72 locus. Hybridisation of EcoRI and XbaI digested DNA extracted from the cultured lymphoblastoid cell lines of patients positive (+) or negative (-) for GGGGCC repeat expansion according to results of the repeat-PCR analysis. Note the presence of ~1.6 kb band representing an allele with relatively small, although what is considered pathological, i.e. >30, number of repeats in one of the C9ORF72 loci in the genome of three patients (lanes 1 – 3). In contrast to patients carrying the second allele without pathological repeat expansion (lanes 2–6), one patient (lane 1) has the second allele with very high number of repeats. Where relevant, the ratios of the 1.33 kb to 1.05 kb and/or ~1.6 kb to 1.05 kb bands intensities are shown below the image. Note that for sample 6 the intensity used for calculation is combined intensities of two close ~1.33 kb size bands.