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. Author manuscript; available in PMC: 2020 Feb 1.
Published in final edited form as: Amyotroph Lateral Scler Frontotemporal Degener. 2018 Nov 15;20(1-2):107–114. doi: 10.1080/21678421.2018.1522353

Figure 3: Comprehensive C9orf72 genotyping of 2095 NINDS ALS samples from the Coriell cell repository.

Figure 3:

A) Genotype summary table. B) The normal and intermediate C9orf72 repeat size distribution (by allele; <30 repeats) within the tested Coriell NINDS ALS sample set was consistent with previous reports (12). C) Representative GS-PCR results, repeat sizes are listed (right). Detection of hyper-expanded ~5.8kb (950 repeat) amplicons and low-level size mosaicism. An admixture of samples ND06751 and ND09492 in equal parts was used to assess processivity, sensitivity, and AGE sizing accuracy. D) A noticeable offset in the RP single start site (~124 bp), or signal dips in the RP profile are evident when 3’ deletions or insertions are present. Representative samples and their confirmed underlying sequence are shown. Top pane (no 3’-SV), ND09438; middle pane (deletion), ND12947; bottom pane (insertion), ND09492.