Kai M, Arakawa H, Sugimoto Y, Murata Y, Ogawa M, Nakamura Y
Department of Biochemistry, Cancer Institute, Tokyo.
Jpn J Cancer Res. 1995 Mar;86(3):249-51. doi: 10.1111/j.1349-7006.1995.tb03047.x.
We examined a candidate tumor suppressor gene on chromosome 9p21, MTS1/CDK4I (multiple tumor suppressor 1/cyclin-dependent kinase 4 inhibitor), which has been found to be mutated frequently in cell lines derived from bladder carcinomas, for somatic mutations in 39 primary bladder cancers by means of SSCP (single-stranded conformational polymorphism) and DNA sequencing. Mutations were detected in two of these carcinomas; one was a 61-base deletion and the other a 1-base deletion. In both cases the homologous allele was missing, indicating that "two-hit" mutation of the MTS1 gene had taken place in these tumors. The results indicated that inactivation of the MTS1 gene is likely to be a contributing factor in some, but not the majority of, bladder cancers.
我们检测了位于9号染色体p21区域的一个候选肿瘤抑制基因MTS1/CDK4I（多肿瘤抑制因子1/细胞周期蛋白依赖性激酶4抑制剂），该基因在源自膀胱癌的细胞系中经常发生突变。我们采用单链构象多态性（SSCP）和DNA测序方法，对39例原发性膀胱癌中的体细胞突变进行检测。在其中2例癌组织中检测到了突变；1例为61个碱基的缺失，另1例为1个碱基的缺失。在这两种情况下，同源等位基因均缺失，表明这些肿瘤中发生了MTS1基因的“双打击”突变。结果表明，MTS1基因的失活可能是部分膀胱癌（但并非大多数）发病的一个促成因素。
