【摘要】 目的研究原发性多形性胶质母细胞瘤7号染色体等位基因失平衡(allelicimbalance,AI)发生率,寻找与胶质母细胞瘤发生、发展可能相关的染色体区域。方法应用聚合酶链反应(PCR)方法,通过荧光标记引物和377型DNA序列自动分析仪,对20例原发性胶质母细胞瘤患者7号染色体上的22个微卫星多态性标记进行杂合性丢失(lossofheterozygosity,LOH)分析。结果20例患者中50%(10例)存在7号染色体等位基因失平衡,在可提供信息的位点中37.8%(126/333)存在等位基因失平衡。其中7q和7p的等位基因失平衡率分别为50%(10/20)和45%(9/20)。在7q31.3～32上的D7S640～D7S684区域和7q36上的D7S2465位点等位基因失平衡检出率高达50%～58.3%。结论7号染色体的分子遗传学异常可能在原发性胶质母细胞瘤的分子发病机制中发挥重要作用,在7q31.3～32上的D7S640～D7S684区域和7q36上的D7S2465位点所在区域可能存在与原发性胶质母细胞瘤相关的肿瘤基因。更多还原

【Abstract】 Objective Allelic imbalance (AI) on chromosome 7 in primary glioblastoma multiforme (GBM) was detected to locate the chromosomal regions probably associated with the pathogenesis of GBM. Methods All of the 22 microsatellite polymorphism markers on chromosome 7 in 20 cases with GBM were detected by polymerase chain reaction (PCR) technique with fluorescence-labeled primers and Perkin Elmer 377 DNA sequencer and the loss of heterozygosity (LOH) in them was analyzed. Results Of the 20 cases with GBM, 50% (10/20) with AI on chromosome 7, allelic imbalance was occurred in 37.8% (126/333) of informative loci. The allelic imbalance rate on 7q and 7p were 50% (10/20) and 45% (9/20) respectively and most frequently occurred at locus D7S2465 on 7q36 and between loci D7S640 and D7S684 on 7q31.3-32 with imbalance rate 50%-58.3%. Conclusion Molecular genetic abnormality of chromosome 7 may play an important role on the molecular pathogenesis in GBM. The chromosomal regions at locus D7S2465 on 7q36 and between loci D7S640 and D7S684 on 7q 31.3-32 may exist oncogenes associated with GBM.更多还原