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目的 评价染色体 14q的 (杂合性 )丢失是否与原发性多形性胶质母细胞瘤的发生发展有关 ,并确定 14q上可能存在的共同杂合性丢失区域。方法 应用聚合酶链反应 (PCR)为基础的微卫星分析方法 ,采用 14个荧光标记的多态性 (微卫星 )标记 ,检测了2 0例原发性多形性胶质母细胞瘤 (GBM)染色体 14q的杂合性丢失 (LOH)状况。结果 5 0 % (10 /2 0例 )GBM在染色体 14q上至少有一个微卫星标记存在LOH ,其中 5个病例的所有被检测标记都表现为LOH或者不能提供信息。在位于 14q32 1的D14S6 5位点、14q2 3 31的D14S6 3～D14S74位点间区域检测到的LOH率最高 ,分别为 5 7 1%、4 6 7%～ 4 7 1%。在本研究中的所有位点 ,均未检测到微卫星不稳定。结论 染色体 14q上的等位基因丢失可能在GBM发病机制中起着重要作用 ,14q32 1上的D14S6 5位点、14q2 3 31上的D14S6 3～D14S74位点间区域可能存在与GBM相关的多个肿瘤抑制基因
Objective To evaluate whether loss of heterozygosity of chromosome 14q is associated with the development of primary glioblastoma multiforme and determine the region of potential loss of common heterozygosity on chromosome 14q. METHODS: Twenty-four primary markers of glioblastoma multiforme (GBM) were detected by polymerase chain reaction (PCR) -based microsatellite analysis using 14 fluorescently-labeled polymorphism (microsatellite) markers ) Loss of Heterozygosity (LOH) on Chromosome 14q. Results 50% (10 of 20 cases) of GBM had LOH on at least one microsatellite marker on chromosome 14q, and all the detected markers in 5 cases showed LOH or could not provide information. In D14S6 5 locus located at 14q32 1, the LOH rates detected in the region of D14S6 3 ~ D14S74 loci of 14q2 3 31 were the highest, 57.1% and 46.7% -47.1%, respectively. Microsatellite instability was not detected at all sites in this study. Conclusion Loss of allele on chromosome 14q may play an important role in the pathogenesis of GBM. There may be multiple GBM related sites in D14S6 5 locus on 14q32 1 and D14S6 3 ~ D14S74 locus on 14q2 3 31 Tumor suppressor gene