Tjia Wai Mui, Hu Liang, Zhang Min-Yue, Guan Xin-Yuan
Department of Clinical Oncology, Centre for Cancer Research, The University of Hong Kong, Room L10-56, 10/F, Laboratory Block, 21 Sassoon Road, Pokfulam, Hong Kong, China.
Cancer Lett. 2007 May 18;250(1):92-9. doi: 10.1016/j.canlet.2006.09.023. Epub 2006 Nov 13.
Deletions in 4q, 13q and 16q were frequently detected in hepatocellular carcinoma (HCC) by comparative genomic hybridization (CGH) studies. However, detailed chromosome structural aberrations are not fully explored. Using CGH combined with multiplex-color FISH (M-FISH) with chromosome region-specific probes (CRPs), chromosome structural aberrations in 4q, 13q and 16q in six HCC cell lines were studied. All CRPs, which were generated from microdissected DNA, were specific, strong in intensity and sensitive enough to detect chromosome structural aberrations including translocation and deletion. FISH with BAC probes was used to further characterize translocation breakpoints and deletions. A breakpoint at 16q22 was localized at a BAC clone (RP11-341K23) and another breakpoint at 4q28 was localized within a 620 kb-region. A minimal deleted region at 13q21 was found between BAC clones RP11-240M20 and RP11-435P18. This study demonstrated that the combination of CGH, M-FISH and BAC-FISH is a very useful tool to detect and characterize translocation breakpoint.
通过比较基因组杂交（CGH）研究发现，4号染色体长臂（4q）、13号染色体长臂（13q）和16号染色体长臂（16q）的缺失在肝细胞癌（HCC）中经常被检测到。然而，详细的染色体结构畸变尚未得到充分研究。本研究采用CGH结合多重彩色荧光原位杂交（M-FISH）及染色体区域特异性探针（CRP），对6株肝癌细胞系的4q、13q和16q染色体结构畸变进行了研究。所有由显微切割DNA产生的CRP均具有特异性，信号强度强，灵敏度足以检测包括易位和缺失在内的染色体结构畸变。使用BAC探针的荧光原位杂交（FISH）进一步对易位断点和缺失进行了特征分析。16q22处的一个断点定位在一个BAC克隆（RP11-341K23）上，4q28处的另一个断点定位在一个620 kb的区域内。在BAC克隆RP-11-240M20和RP11-435P18之间发现了13q21的一个最小缺失区域。本研究表明，CGH、M-FISH和BAC-FISH的联合应用是检测和鉴定易位断点的非常有用的工具。
