Fig. 2

RT-PCR analysis of lymphoblastoid cell lines from patients 1 and 2 in family 1. Total RNA was extracted from a patient-derived lymphoblastoid cell line treated with or without CHX. a Electrophoresis of RT-PCR products. The band intensity in cells from affected patients treated with DMSO (vehicle control) was weak compared to that of control cells and was significantly stronger after CHX treatment (an NMD inhibitor). b Electropherograms of RT-PCR products (reverse strand). The mutant allele was recovered by CHX treatment. Red square highlights the change in signal of the mutant allele. CXH cycloheximide, DMSO dimethyl sulfoxide, NMD nonsense-mediated mRNA decay, RT (−) without reverse transcriptase (negative control)