Detection of p53 gene mutations in oral squamous cell carcinomas of a black African population sample.
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van Rensburg EJ, Engelbrecht S, van Heerden WF, Kotze MJ, Raubenheimer EJ
Detection of p53 gene mutations in oral squamous cell carcinomas of a black African population sample.
Hum Mutat. 1998;11(1):39-44.
- PubMed ID
- 9450901 [ View in PubMed]
- Abstract
Mutations in the p53 gene have been reported in head and neck carcinomas. We determined the p53 mutation profile in 55 oral squamous cell carcinomas (OSCCs) from a black African population sample. DNA from all the patients were investigated using PCR amplification of the p53 gene (exons 5-9), followed by heteroduplex single-stranded conformational polymorphism (HEX-SSCP) analysis on the PCR products. Direct sequencing was performed on cases where mutations were identified. The results showed mutations in 13 of 55 (23.6%) tumours. Eleven of 13 (85%) were single base pair substitutions (9 transitions and 2 transversions), and 2 were deletions. Two novel mutations were identified: a large 63-base pair deletion, and a single base pair substitution. The mutations in our study occurred outside the head and neck tumour hot spot region (codons 238-248).