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Figure 1 | Molecular Neurodegeneration

Figure 1

From: Simultaneous and independent detection of C9ORF72 alleles with low and high number of GGGGCC repeats using an optimised protocol of Southern blot hybridisation

Figure 1

Southern blot analysis of GGGGCC repeat expansion in the C9ORF72 locus. (A) Scheme of a region around exons 1a and 1b of human C9ORF72 gene with a single copy of GGGGCC sequence (top) or expansion of this repeat (bottom). The black bar in the middle denotes a DNA probe used for Southern blot hybridisation. The sizes of fragments produced by double EcoRI and XbaI digestion and detected by hybridisation with this probe are shown. (B) Hybridisation of EcoRI and XbaI digested DNA extracted from the whole blood of patients positive (+) or negative (-) for GGGGCC repeat expansion according to results of the repeat-PCR analysis. The ratios of band intensities obtained by scanning the X-ray film are shown below the image. Note that for sample 7 the intensity used for calculation is combined intensities of two close ~1.33 kb size bands. (C) 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.

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