Noble-Topham S E, Burrow S R, Eppert K, Kandel R A, Meltzer P S, Bell R S, Andrulis I L
Department of Pathology, Mount Sinai Hospital, Toronto, Ontario, Canada.
J Orthop Res. 1996 Sep;14(5):700-5. doi: 10.1002/jor.1100140504.
The development of several types of human tumors is related to amplification of genes that are involved in cell growth. The protein products of these genes give the cells a selective growth advantage. The q13-15 region of chromosome 12 is frequently altered in human sarcomas, and the SAS gene has been identified in an amplification unit mapping to this region. Gene amplification of SAS was analyzed to determine the frequency of genetic alteration of this gene in osteosarcoma. Using Southern blot analysis as well as quantitative polymerase chain reaction, SAS was found to be amplified in 10 (36%) of 28 osteosarcomas. Gene amplification was evaluated in subtypes of osteosarcoma. All seven surface osteosarcomas displayed amplified SAS. In contrast, SAS was amplified in only two (13%) of 15 intramedullary osteosarcomas. The finding that all surface osteosarcomas demonstrated SAS gene amplification suggests that this gene may play a role in the pathogenesis of osteosarcoma subtypes and that surface osteosarcoma may be genetically different from high-grade intramedullary osteosarcoma.
几种类型的人类肿瘤的发展与参与细胞生长的基因扩增有关。这些基因的蛋白质产物赋予细胞选择性生长优势。12号染色体的q13 - 15区域在人类肉瘤中经常发生改变，并且在定位于该区域的一个扩增单元中鉴定出了SAS基因。分析了SAS基因扩增以确定该基因在骨肉瘤中基因改变的频率。使用Southern印迹分析以及定量聚合酶链反应，发现28例骨肉瘤中有10例（36%）存在SAS基因扩增。在骨肉瘤的亚型中评估了基因扩增情况。所有7例表面骨肉瘤均显示SAS基因扩增。相比之下，15例髓内骨肉瘤中只有2例（13%）存在SAS基因扩增。所有表面骨肉瘤均表现出SAS基因扩增这一发现表明，该基因可能在骨肉瘤亚型的发病机制中起作用，并且表面骨肉瘤在基因上可能与高级别髓内骨肉瘤不同。
