Brookes S, Lammie G A, Schuuring E, Dickson C, Peters G
Imperial Cancer Research Fund Laboratories, London, United Kingdom.
Genes Chromosomes Cancer. 1992 Jun;4(4):290-301. doi: 10.1002/gcc.2870040404.
DNA amplification involving markers on human chromosome band 11q13 is a consistent feature of several major cancers, notably adenocarcinoma of the breast and squamous cell carcinoma of the head, neck, lung, and esophagus. Since the presence of the amplification may be clinically significant, by defining a subset of patients at increased risk, it is important to establish which of the several genes on the amplified DNA provides the selective force. Here we describe a physical map of the centromeric end of the amplified DNA as it exists in a particular squamous carcinoma cell line (UMSCC2) and establish an unambiguous order for several known markers in the region, including pMS51/D11S97, pHB159/D11S146, BCL1, PRAD1/D11S287, HSTF1/FGF4 and INT2/FGF3. Significantly, PRAD1 is within 120-150 kb of the BCL1 translocation breakpoint and the data identify a new CpG island (D11S814) between PRAD1 and HSTF1. The ordering of the HSTF1 and INT2 genes and the clustering of CpG islands in the region have important implications in assessing whether the frequently observed amplifications at 11q13 are centered on one or more genes.
涉及人类染色体11q13带上标记的DNA扩增是几种主要癌症的一个一致特征,尤其是乳腺癌腺癌以及头颈部、肺部和食管的鳞状细胞癌。由于这种扩增的存在可能具有临床意义,通过定义一组风险增加的患者亚群,确定扩增DNA上的几个基因中哪一个提供选择力很重要。在这里,我们描述了扩增DNA着丝粒末端在特定鳞状癌细胞系(UMSCC2)中的物理图谱,并确定了该区域几个已知标记的明确顺序,包括pMS51/D11S97、pHB159/D11S146、BCL1、PRAD1/D11S287、HSTF1/FGF4和INT2/FGF3。值得注意的是,PRAD1位于BCL1易位断点的120 - 150 kb范围内,数据确定了PRAD1和HSTF1之间一个新的CpG岛(D11S814)。HSTF1和INT2基因的排序以及该区域CpG岛的聚类对于评估11q13处频繁观察到的扩增是否集中在一个或多个基因上具有重要意义。