Yamakawa K, Morita R, Takahashi E, Hori T, Ishikawa J, Nakamura Y
Department of Biochemistry, Cancer Institute, Tokyo, Japan.
Cancer Res. 1991 Sep 1;51(17):4707-11.
A detailed analysis of loss of heterozygosity in 40 sporadic renal cell carcinomas was performed by using 30 restriction fragment length polymorphism markers which were mapped on the short arm of chromosome 3. A total of 30 of 38 informative cases (79%) showed loss of heterozygosity at one or more loci. Two commonly deleted regions have been identified at 3p13-14.3 and 3p21.3. One of them (at 3p13-14.3) spans the breakpoint of the (3;8) translocation in hereditary renal cell carcinoma previously reported (A. J. Cohen et al., N. Engl. J. Med., 301:592-595, 1979). The second common region of deletion at chromosome 3p21.3 encompasses D3F15S2, at which a high incidence of loss of heterzygosity in renal cell carcinoma has been reported. In addition to the gene at 3p25 being responsible for the hereditary type of renal cell carcinoma in patients with von Hippel-Lindau disease, our results suggest that at least two tumor suppressor genes for sporadic renal cell carcinoma exist on the short arm of chromosome 3.
利用30个定位在3号染色体短臂上的限制性片段长度多态性标记，对40例散发性肾细胞癌的杂合性缺失进行了详细分析。在38例信息充分的病例中，共有30例（79%）在一个或多个位点表现出杂合性缺失。已在3p13 - 14.3和3p21.3处确定了两个常见的缺失区域。其中一个区域（3p13 - 14.3）跨越了先前报道的遗传性肾细胞癌中（3;8）易位的断点（A. J. 科恩等人，《新英格兰医学杂志》，301:592 - 595，1979年）。3号染色体p21.3处的第二个常见缺失区域包含D3F15S2，据报道在肾细胞癌中该区域杂合性缺失的发生率很高。除了3p25上的基因负责冯·希佩尔 - 林道病患者的遗传性肾细胞癌类型外，我们的结果表明，3号染色体短臂上至少存在两个散发性肾细胞癌的肿瘤抑制基因。
