[The status of p53 gene in the primary retinoblastoma].
OBJECTIVE
This study was designed to investigate whether development or progression of retinoblastoma is related with p53 gene mutation.


METHODS
A total of 52 cases with primary retinoblastoma were investigated for p53 gene point mutations. To do this, entire coding sequence, including exon 2 - 11, and their vicinity intron sequence were examined by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) analysis followed by direct genomic DNA sequencing.


RESULTS
Only did the polymorphisms, silent mutations and variants in intron have been shown in p53 gene, no real p53 gene mutation was found in retinoblastoma no matter the tumor carried Rb gene mutation or not.


CONCLUSIONS
The evidence provided here indicates that the development or progression of retinoblastoma is not associated with p53 gene mutation.
Huang
Q
Q
Department of Ophthalmology, The First Clinical Medical School, West China University of Medical Sciences, Chengdu 610041.
D016161:Genes, Retinoblastoma; D016158:Genes, p53 / Q000235:genetics*; D006801:Humans; D009154:Mutation; D018807:Polymorphism, Single-Stranded Conformational; D019572:Retinal Neoplasms / Q000235:genetics*; D012175:Retinoblastoma / Q000235:genetics*; D017422:Sequence Analysis, DNA