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[Mutation and methylation of CDKN2 gene in human head and neck carcinomas]
Objective:
To study mutations of CDKN2 gene in human head and neck carcinomas (HNC) and to elucidate the role of this gene in tumorigenesis.
Methods:
PCR-SSCP and sequencing techniques were used to detect mutations in fresh specimens from 36 HNC cases. Specimens from 20 cases were further analysed for methlyation status of the CpG islands in the first exon of the gene using restriction enzyme digestion plus Southern blotting analysis.
Results:
CDKN2 gene mutations were detected in 4 HNC cases of which 2 were missense mutation and the other 2 were frameshift mutation. Methylation status analysis revealed that 8 out of 20 HNC cases had de novo methylation of CpG island within the first exon of CDKN2 gene.
Conclusion:
The results shown here suggest that in addition to gene mutation and deletion, de novo methylation of the CpG island may be a frequent event in human carcinogenesis.