A missense mutation outside the large pocket of the retinoblastoma protein / 中国病理生理杂志

ABSTRACT

AIM: To understand the effect of the RB1 gene mutation on the function of pRB (the protein product of the RB1 gene) in the patients with retinoblastoma (RB). METHODS: The genomic DNA from retinoblastoma patients was extracted. After amplification, the promoter and all 27 exons were screened by SSCP-heteroduplex method. The mutation was cloned and identified by sequencing. The effect of the mutation product on the function of pRB was analyzed. RESULTS: One missense mutations of the exon 4 of the RB1 gene was identified in the genomic DNA from RB patients. This mutation was outside the large pocket of the pRB. No mutation of the RB1 gene was found in the genome DNA of the patient's parents. This is the fourth report that there was a genome mutation located outside the large pocket of pRB in the RB patients. CONCLUSION: The amino-terminus of the pRB may be essential for growth suppression.