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Table 4 Summary of validation experiments for the candidate genes

From: Genome-wide analysis of Ollier disease: Is it all in the genes?

Candidate genes Technique used Summary of validation
PRKG1 MLPA No copy number change in controls. Gain in tumor (1/37)
FAM86D MLPA, qRT-PCR Loss in controls (5/38), gain in controls (1/38), HMloss in tumors (2/37) loss in tumours (6/37). Lower m-RNA expression in ECs
POU5F1 MLPA, qRT-PCR, IHC Gain in controls (3/38), loss in tumors (4/37), gain in tumors (2/37). Its mRNA and protein expression was absent in tumors
ANKS1B MLPA, qRT-PCR No copy number changes in controls and tumors. Lower m-RNA expression in L2220 compared with other 7ECs
TCRA _probe1 MLPA Loss in controls (4/38), gain in tumors (2/37)
TCRA _probe2 MLPA Loss in controls (4/38), gain in tumors (2/37)
NIPBL IHC 30% Ollier tumors showed protein expression