【摘要】 目的 寻找胶质母细胞瘤(GBM)6号、8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PCR方法和DNA序列自动分析仪,分析了21例GBM6号、8号染色体上20个、14个微卫星多态性标记的LOH。结果 6号染色体的LOH率为47.6％,在28.1％能提供信息位点上检测到了LOH。其中,6p和6q的LOH率分别是28.6％、38.1％,在6qtel上距短臂端粒201.1cM的微卫星位点D6S281检测到了较高的LOH率(50％),6q16.3上D6S287的LOH率也高达50％,另外,6p21.1-p21.3上D6S276的LOH率也较高(35.3％)。本组病例的8号染色体LOH率较低(23.8％),在16.3％能提供信息位点检测到LOH。其中8p12-p22上D8S550和D8S549的LOH率较高,分别是27.8％、30.0％。结论 6号染色体分子遗传学变化可能在GBM的发病中起着重要作用,8号染色体异常改变所起的作用可能不如6号染色体重要,但在8p12-p22上D8S550-D8S549位点间区域也有可能存在与GBM相关的TSG。更多还原

【Abstract】 Objective Twenty loci on chromosome 6 and 14 loci on chromosome 8 were examined to detect any loss of heterozygosity (LOH)in 21 cases of glioblastoma (GBM), so that the deletion areas probably harboring tumor suppressor genes (TSG) would be located. Methods The microsatellite polymorphism analyses were performed to detect the LOH on chromosome 6 and 8 by PCR and Perkin Elmer 377 DNA sequencer in the 21 cases with GBM. Results In The present cases, 47.6%, of informative cases of GBM displayed LOH on chromosome 6 and 28.1% of the informative loci showed LOH. The LOH were most frequently observed at locus D6S281 (50%) on 6qtel and D6S287 (50%) on 6ql6.3. The LOH frequency at locus D6S276 on 6p21.1-p21.3 was also high (35.3%). In our series 23.8% informative cases of GBM displayed LOH on chromosome 8, 16.3% of informative loci showed LOH. The most frequent LOH were observed in the chromosomal region from D8S550 (27.8%) to D8S549 (30.0%) on 8p12-p22. Conclusions Loss of the genetic material on chromosome 6 may be involved in the molecular genetic pathogenesis of GBM. The role in the GBM pathogenesis played by the molecular genetic abnormality on chromosome 8 is probably not so important as that did by chromosome 6, but the chromosomal region from D8S550 to D8S549 on 8pl2-p22 is a possible site where the TSG related GBM can be detected.更多还原