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.
journal_name
Int J Oncoljournal_title
International journal of oncologyauthors
Su G,Senft S,Cowell Jdoi
10.3892/ijo.6.3.687subject
Has Abstractpub_date
1995-03-01 00:00:00pages
687-91issue
3eissn
1019-6439issn
1791-2423journal_volume
6pub_type
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journal_title:International journal of oncology
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doi:
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journal_title:International journal of oncology
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journal_title:International journal of oncology
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