Oncogenic mutations in the rb1 gene in retinoblastoma tumors from patients from the kingdom of saudi-arabia

Abstract

Five retinoblastoma tumours from patients treated in the King Khaled Eye Specialist Hospital in Riyadh were analysed for mutations in the RB1 gene using single strand conformation polymorphism analysis and mutations were found in all of them. In one tumour the mutation in exon 11 was homozygous demonstrating the role of loss of heterozygosity in tumorigenesis. The mutation in the remaining 4 tumours were heterozygous and in only one case were two independent mutations found. Three mutations were insertions or deletions and the other three were point mutations of which 5 resulted in the generation of premature stop codons within the coding region of the gene and one is predicted to affect the correct splicing of the pre-mRNA. The nature of the mutations found in this series of patients from the Kingdom of Saudi Arabia, therefore, are similar to those found in other populations throughout the world and show no evidence for mutation hotspots within the RB1 gene.