[Mutations of several tumor suppressor genes in primary retinoblastoma].
OBJECTIVE
To study the status of several tumor suppressor genes in primary retinoblastoma.


METHODS
Single stranded conformation polymorphism (SSCP) analysis associated with direct DNA sequencing was used to identify point mutations in the coding sequence of Rb, p53, p16, p15 and p21 tumor suppressor genes, and multiplex PCR was used to detect big deletion in p16 and p15 genes.


RESULTS
Rb gene point mutation was detected in 74% of retinoblastoma and p16 gene big deletions in 16% of retinoblastoma with or without Rb gene mutation. However, despite polymorphism, no real mutation was detected in p53 or p21 gene in retinoblastoma.


CONCLUSIONS
The evidence from this study suggests that retinoblastoma is resulted exclusively from alterations of genes in Rb pathway.
Huang
Q
Q
First Clinical Medical School, West China University of Medical Sciences, Chengdu 610041.
Tao
Y
Y
Yandell
D W
DW
D018797:Cell Cycle Proteins; D050762:Cyclin-Dependent Kinase Inhibitor p15; D005134:Eye Neoplasms / Q000235:genetics*; D016161:Genes, Retinoblastoma; D016147:Genes, Tumor Suppressor; D019942:Genes, p16; D016158:Genes, p53; D006801:Humans; D009154:Mutation; D012175:Retinoblastoma / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics; D025521:Tumor Suppressor Proteins
C493966:CDKN2B protein, human; D018797:Cell Cycle Proteins; D050762:Cyclin-Dependent Kinase Inhibitor p15; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins