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. Author manuscript; available in PMC: 2020 Aug 5.
Published in final edited form as: J Med Genet. 2019 Oct 5;57(4):274–282. doi: 10.1136/jmedgenet-2019-106409

Figure 5. TMX2 c.500G>A allele associates with reduced mRNA levels in carriers and affected individuals.

Figure 5.

(A) Illustration of TMX2 with an expanded view of exons five through eight. Red line indicates the location of the variant. (B) Schematic of primer pairs designed for RT-PCR analysis and expected base pair sizes for the corresponding products. Black arrows indicate the approximate location of the primers. Red line indicates the location of the variant. (C) RT-PCR analysis of RNA extracted from whole blood derived from an unrelated control (C), the unaffected father (II-1) and one affected individual (III-2) from Family 2525, and both parents (II-1 and II-2) and one affected individual (III-3) from Family 4984. There was reduction of TMX2 mRNA levels in affected individuals (red) compared to the normalized expression of 1.0 in the unrelated control (n=3). TMX2 levels of parent carriers (grey) that were intermediate compared with unrelated control. GAPDH was used as a loading control. (D) Quantification of RT-PCR results displaying relative mRNA expression normalized to GAPDH. n=3 independent experiments. Bars show mean ± standard deviation (SD) and individual data points.