Detection of p53 gene mutation in oral squamous cell carcinoma patients using multiplex ligation-dependent probe amplification in Malaysian population / Fatimah Suriati Sulaiman

P53 gene mutations observed at about 50 to 60 % in oral squamous cell carcinoma (OSCC). Until now, most of the studies were focused on exon 5 to 8 of p53 gene instead of the whole exons and it becomes a trend for p53 gene mutation study. However, the site of p53 gene mutation is still in controversy as available techniques showed different results. More importantly, using the same technique the reports demonstrated inconsistence mutation sites. The objective of the present study is to examine the status of p53 gene mutation in all exons (1 to 11). Recently, Multiplex Ligation-dependent Probe Amplification (MLPA) technique has proven to be reliable and efficient for the detection of mutation. Therefore, present study used Multiplex Ligation-dependent Probe Amplification (MLPA) to examine p53 gene mutation from exons 1 to 11. DNA specimens from 58 OSCC patients and 10 healthy (controls) were used in this study. Our results demonstrated that 31% of OSCC patient have p53 gene mutation. Among them 56% of mutation occurred in exon 3, followed by exon 4 which was 50%. Our study strongly indicated that exons 3 and 4 could be reliable and positive markers of OSCC development and progression. To our knowledge, this study for the first time showed that exon 3 is the hot spot region for p53 gene mutation in OSCC.