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 |