目的:

Objective: To explore the relationship between NF2 promoter gene mutation and the risk of medulloblastomas (MB).

方法: Method:  We collected tissues from 16 MB patients and 7 age-matched non-MB controls. Gene sequencing, q-PCR (real-time quantitative polymerase chain reaction), IHC (Immunohistochemistry) and WB (Western Blot) were used to analyze the changes in the NF2 gene sequence and expression between patients and controls.
 

结果:

Results: We found that NF2 promoter gene mutations occurred in MB patients. The mRNA level of NF2 was higher in the controls than in the patients (p=0.03<0.05); however, the results of IHC and WB demonstrated that the NF2 protein expression was significantly higher in the patients than the controls (IHC: p=0.0001; WB: p=0.01). There was no significant difference in CRL4 mRNA and protein expression. In addition, NF2 protein was mainly expressed the nucleus in MB patients, while the NF2 protein was mainly expressed in cytoplasm in the controls.

结论:

Conclusion: NF2 promoter mutations exist in MB patients. NF2 mRNA expression was higher in controls than patients; whereas, NF2 protein level was higher in patients than controls.