RB基因位于13q14,全长150kb,编码一个由928个氨基酸组成的分子量为110 000蛋白(pp110RB).它能特异性与SV40大T,E1A和E7结合.在视网膜细胞中,RB呈衡定组成性表达,其缺陷除引起RB外,在骨肉瘤、乳腺癌、小细胞肺癌、软组织肉瘤及造血系统增生性疾病也有RB基因的突变.把RB基因导入到基因缺陷的恶性肿瘤细胞能全部或部分抑制其恶性表现.
The RB gene is located at chromosome 13q14 which spans more than 150kb, with one interal gap, and its product is a phosphoprotein of about 110kD which is constantly expressed in normal retina cells. The RB Protein can specifically bind to SV40 large T, E1A and E7 antigens. The deficiency of the RB gene is the cause of retinoblastoma. Besides, RB gene mutations are detected in osteosarcomas, breast carcinomas, small-cell lung cancer (SCLC) , soft-tissue sarcomas and hematopoietic proliferative disorders. The tumorigenicity can be partially or totally suppressed by introducing the RB gene into the tumor cells.
龚国胜,钱丽清. RB基因与肿瘤抑制[J].生物化学与生物物理进展,1994,21(4):317-322
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