目的深入研究视网膜母细胞瘤（ＲＢ）内多种肿瘤抑制基因的存在状态。方法综合利用ＳＳＣＰ分析、ＤＮＡ序列测定以及多重ＰＣＲ等技术，检测分析ＲＢ肿瘤内Ｒｂ、ｐ５３、ｐ１６、ｐ１５及ｐ２１等肿瘤抑制基因是否存在缺失与点突变。结果约７４％的ＲＢ肿瘤有Ｒｂ基因点突变，１６％显示ｐ１６基因缺失，但ｐ５３及ｐ２１基因除多态性外未检测到真正的点突变。结论ＲＢ的发病和病变的进展主要是由于以Ｒｂ基因为核心的代谢通路的异常所致。 Objective To investigate the existence of multiple tumor suppressor genes in retinoblastoma (RB). Methods The SSCP analysis, DNA sequencing and multiplex PCR were used to analyze the presence or absence of tumor suppressor genes such as Rb, p53, p16, p15 and p21 in RB tumors. RESULTS: About 74% of RB tumors had Rb gene point mutations, and 16% showed p16 gene deletions. However, no real point mutations were detected except p53 and p21 genes. Conclusion The pathogenesis and pathological changes of RB are mainly due to the abnormality of metabolic pathways centering on Rb gene.