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Detection of p53 gene mutations in oral squamous cell carcinomas of a black African population sample
Author(s) -
van Rensburg Estrelita J.,
Engelbrecht Susan,
van Heerden Willem F. P.,
Kotze Maritha J.,
Raubenheimer Erich J.
Publication year - 1998
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(1998)11:1<39::aid-humu6>3.0.co;2-g
Subject(s) - biology , basal cell , gene , genetics , population , mutation , cancer research , pathology , demography , sociology , medicine
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). Hum Mutat 11:39–44, 1998. © 1998 Wiley‐Liss, Inc.