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Fig. 1 | BMC Medical Genetics

Fig. 1

From: SDHC methylation in gastrointestinal stromal tumors (GIST): a case report

Fig. 1

SDHC alteration of GIST_21. a Down-modulation of SDHC mRNA in GIST_21 (red) with respect to the other SDHA-mutated (orange) and KIT/PDGFRA-mutated (light blue) GIST. b Western blot immunostaining of SDHA and SDHB proteins. GIST_21 showed negative SDHBstaining similar to SDHA-mutant GIST. Actin was used as loading control. c Partial chromatogram of PCR products of the promoter region of the SDHC gene. Tumor genomic DNA from GIST_21 and 11 GIST control samples (3 SDHA and 8 KIT/PDGFRA mutants) were treated with bisulfite before amplification and sequencing. The upper sequence, belonging to GIST_21, carries methylated CpG in heterozygous status, whereas the lower sequence is an example of methylation-negative control samples. Stars show the location of CpG dinucleotides methylated in the predicted CpG island, while boxes show the C outside of the CpG island completely converted by bisulfite to T. d SDHC mRNA expression level comparison between the methylated case (GIST_21) and the 11 methylation-negative samples (3 SDHA and 8 KIT/PDGFRA mutants). P value was estimated with one sample t test

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