视网膜母细胞瘤易感基因(Rb基因)是第一个分子克隆的人类肿瘤抑制基因,其基因座位在13q14,由27个外显子组成,长200 kb。在正常组织中该基因能转录出4.7 kb的mRNA和编码一种分子量为110 kD的核磷酸蛋白。研究表明,13q14的纯合缺失可导至视网膜母细胞瘤(Rb)的发生。近年来研究发现,非遗传性成人肿瘤如小细胞肺癌、乳腺癌、骨肉瘤、胃癌、肠癌等也有13号染色体的杂合性丧失(LOH),有些LOH涉及到Rb基因座位。Wada等曾观 The retinoblastoma susceptibility gene (Rb gene) is the first human cloned human tumor suppressor gene. Its gene locus is 13q14 and consists of 27 exons and is 200 kb in length. In normal tissues, the gene transcribes 4.7 kb of mRNA and encodes a nuclear protein with a molecular weight of 110 kD. Studies have shown that the homozygous deletion of 13q14 leads to retinoblastoma (Rb). In recent years, studies have found that non-genetic adult cancers such as small cell lung cancer, breast cancer, osteosarcoma, gastric cancer, and colorectal cancer also have loss of heterozygosity (LOH) on chromosome 13, and some LOHs involve the Rb locus. Wada et al.