多种肿瘤抑制基因在视网膜母细胞瘤中存在状态的研究

Mutations of several tumor suppressor genes in primary retinoblastoma

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 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. Conclusion The evidence from this study suggests that retinoblastoma is resulted exclusively from alterations of genes in Rb pathway.