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目的建立稳定的比较基因组杂交(CGH)技术,探讨肝母细胞瘤(HB)染色体1p36杂合性缺失(LOH)的特点。方法应用CGH检测30例HB DNA的丢失或扩增;应用聚合酶链反应-简单重复序列多态性(SSLP)方法,对30例HB中染色体1p36上6个微卫星的杂合子丢失进行检测。结果每例HB细胞染色体均有不同程度的变异,HB常见增益的染色体区域是1q、2 q、2p、8 q、8 p、12q和22q,常见丢失的染色体区域为1p、4q、4p、16q、17p和18q。30例HB中,1号染色体上6个基因座发生LOH的总频率为63．3％(19／30),其中D1S199为最高(66．7％),其次为D1S450(46．7％)。结论HB存在多条染色体DNA拷贝数扩增或丢失的区域;HB在染色体1p36上存在广泛的LOH;染色体变异引起相应瘤基因扩增和抑癌基因的丢失可能参与了HB的发生、发展。
Objective To establish a stable comparative genomic hybridization (CGH) technique to investigate the characteristics of chromosome 1p36 heterozygosity deletion (LOH) in hepatoblastoma (HB). Methods The loss or amplification of 30 cases of HB DNA was detected by CGH. The heterozygous loss of 6 microsatellites on chromosome 1p36 in 30 HBs was detected by polymerase chain reaction-simple sequence repeat polymorphism (SSLP). Results The chromosomal regions of HB cells were varied to different extents. The chromosomal regions of HB common gain were 1q, 2q, 2p, 8q, 8p, 12q and 22q. The common missing chromosomal regions were 1p, 4q, 4p, 16q , 17p and 18q. Among 30 HBs, the total frequency of LOH in 6 loci on chromosome 1 was 63.3% (19/30), of which D1S199 was the highest (66.7%), followed by D1S450 (46.7%). Conclusion There are many regions of amplified or deleted copies of chromosomal DNA in HB. HB has a wide range of LOH on chromosome 1p36. Chromosome aberration caused by the expansion of corresponding tumor genes and the loss of tumor suppressor genes may be involved in the occurrence and development of HB.