【摘要】 目的 :寻找胶质母细胞瘤 (GBM) 6号染色体上可能存在肿瘤抑制基因的杂合性丢失 (LOH)区域 ,为发现和定位肿瘤抑制基因 (TSG)提供线索和依据。方法 :应用聚合酶链反应 (PCR)方法 ,采用荧光标记的引物及 377型DNA序列自动分析仪 ,分析了 2 1例GBM患者 6号染色体上 2 0个微卫星多态性标记的LOH。结果 :6号染色体总的LOH检出率为 47.6 % (10 2 1) ,在 2 8.1% (81 2 88)能提供信息位点上检测到了LOH。其中 ,6p和 6q的LOH检出率分别是 2 8.6 % (6 2 1)、38.1% (8 2 1) ,在 6qtel上距短臂端粒 2 0 1.1cM的微卫星位点D6S2 81检测到较高的LOH率(5 0 % ) ,6q1 6 .3上D6S2 87的LOH率也高达 5 0 % ,另外 ,6p2 1 .1 2 1 .3上D6S2 76的LOH率也较高 (35 .3% )。结论 :6号染色体分子遗传学异常改变可能在GBM的发生发展中起着重要作用 ,染色体 6qtel上的D6S2 81位点、6q1 6 .3上的D6S2 87和 6p2 1 .1 2 1 .3的D6S2 76位点所在的染色体区域可能存在与GBM相关的肿瘤抑制基因更多还原

【Abstract】 Purpose:20 loci on chromosome 6 were examined to detect loss of heterozygosity(LOH)in 21 cases of glioblastoma(GBM) in order to locate the deletion areas probably harboring tumor suppressor genes.Methods:PCR based microsatellite polymorphism analyses were performed to detect LOH on chromosome 6, fluorescence labeled primers and Perkin Elmer 377 DNA Sequencer were applied.Results:47.6% informative cases of GBM displayed LOH on chromosome 6, 28.1% of informative loci showed LOH in our series, in which the most frequent LOH were observed at locus D6S281 (50%) on 6q tel and D6S287(50%) on 6q 16.3 ,the LOH frequency at locus D6S276 on 6p 21.1 21.3 is also high(35.3%).Conclusions:Loss of genetic material on chromosome 6 may be involved in the molecular genetic pathogenesis of GBM. The chromosomal regions at loci D6S281 on 6q tel ,D6S287 on 6q 16.3 and D6S276 on 6p 21.1 21.3 may harbor tumor suppressor genes associated with GBM. [更多还原