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. 2015 Sep 18;24(24):6877–6885. doi: 10.1093/hmg/ddv388

Figure 1.

Figure 1.

Effect of 216-bp deletion on KLC2 expression. (A) Relative expression of KLC2 measured by RT-qPCR performed on fibroblast cDNA isolated from SPOAN patients and healthy controls (P < 0.05; Nonparametric test [Mann–Whitney]). (B) KLC2 relative expression measured on fibroflast samples from individual patients and healthy controls. (C) Relative expression of KLC2 measured by RT-qPCR using MN. (D) KLC2 relative expression measured on MN samples from individual patients and healthy controls. (E) KLC2 relative expression measured on whole-blood cDNA samples from affected (homozygotes), heterozygotes and healthy controls. Each RT-qPCR experiment was performed in triplicate and each sample was replicated twice. (F) Expression of luciferase reporter gene controlled by the 216-bp-deleted KLC2 regulatory region relative to the expression controlled by the wild-type KLC2 regulatory region measured in HEK293 T, U87MG and MN cells. Each experiment was performed in triplicate and each cell type was replicated twice (P < 0.05; One-way ANOVA).