T'Ang A, Varley J M, Chakraborty S, Murphree A L, Fung Y K
Division of Hematology/Oncology, Childrens Hospital of Los Angeles, CA.
Science. 1988 Oct 14;242(4876):263-6. doi: 10.1126/science.3175651.
Structural changes of the human retinoblastoma gene have been demonstrated previously in retinoblastoma and some clinically related tumors including osteosarcoma. Structural aberrations of the retinoblastoma locus (RB1) were observed in 25% of breast tumor cell lines studied and 7% of the primary tumors. These changes include homozygous internal deletions and total deletion of RB1; a duplication of an exon was observed in one of the cell lines. In all cases, structural changes either resulted in the absence or truncation of the RB1 transcript. No obvious defect in RB1 was detected by DNA blot analysis in primary tumors or cell lines from Wilms' tumor, cervical carcinoma, or hepatoma. These results further support the concept that the human RB1 gene has pleiotropic effects on specific types of cancer.
先前已在视网膜母细胞瘤以及一些临床相关肿瘤（包括骨肉瘤）中证实了人类视网膜母细胞瘤基因的结构变化。在所研究的25%的乳腺肿瘤细胞系和7%的原发性肿瘤中观察到视网膜母细胞瘤基因座（RB1）的结构畸变。这些变化包括RB1的纯合性内部缺失和完全缺失；在其中一个细胞系中观察到一个外显子的重复。在所有情况下，结构变化要么导致RB1转录本缺失，要么导致其截短。在肾母细胞瘤、宫颈癌或肝癌的原发性肿瘤或细胞系中，通过DNA印迹分析未检测到RB1有明显缺陷。这些结果进一步支持了人类RB1基因对特定类型癌症具有多效性作用的概念。
