Figure 3.

qPCR Assay of TRAPPC9 mRNA

Quantitative measurement of TRAPPC9 mRNA from lymphoblasts, measured using real-time PCR. The level of expression between individuals carrying a mutation in TRAPPC9 and those with the wild-type gene is clearly different, suggesting nonsense-mediated mRNA decay associated with the mutation. Subjects C1 and C2 are age- and sex-matched healthy controls. Affected individuals are V:7 and V:3. mRNA levels were normalized against the housekeeping gene HPRT1. Error bars indicate maximum and minimum values.