视网膜母细胞瘤p53基因存在状态的研究

The status of p53 gene in the primary retinoblastoma

目的探讨ｐ５３基因点突变与视网膜母细胞瘤（ｒｅｔｉｎｏｂｌａｓｔｏｍａ，Ｒｂ）的发病或病变的关系。方法应用单链构象多态性（ｓｉｎｇｌｅｓｔｒａｎｄｃｏｎｆｏｒｍａｔｉｏｎｐｏｌｙｍｏｒｐｈｉｓｍ，ＳＳＣＰ）分析和ＤＮＡ序列测定技术，检测５２例Ｒｂ肿瘤患者ＤＮＡｐ５３基因的整个编码区、ｍＲＮＡ剪接位点及其附近的内含子序列是否存在变异，并与正常对照的ＤＮＡ序列比较，确定其变异的性质。结果５２例Ｒｂ肿瘤中除可见多态性、同义突变及内含子序列的变异外，未检出ｐ５３基因有真正的点突变。结论ｐ５３基因不是通过其结构的突变参与Ｒｂ肿瘤形成的。

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 211, and their vicinity intron sequence were examained by polymerase chain reactionsingle strand conformation polymorphism (PCRSSCP) 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. Conclusion The evidence provided here indicates that the development or progression of retinoblastoma is not associated with p53 gene mutation.