CAJ | 학술논문

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20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 50%(10/20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D14S65位点、14q23-31的D14S63～D14S74位点间区域检测到的LOH率最高,分别为57.1%、 46.7%～47.1%.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D14S65位点、14q23-31上的D14S63～D14S74位点间区域可能存在与GBM相关的多个肿瘤抑制基因.
목적평개염색체14q적(잡합성)주실시부여원발성다형성효질모세포류적발생발전유관,병학정14q상가능존재적공동잡합성주실구역.방법응용취합매련반응(PCR)위기출적미위성분석방법,채용14개형광표기적다태성(미위성)표기,검측료20례원발성다형성효질모세포류(GBM)염색체14q적잡합성주실(LOH)상황.결과 50%(10/20례)GBM재염색체14q상지소유일개미위성표기존재LOH,기중5개병례적소유피검측표기도표현위LOH혹자불능제공신식.재위우14q32.1적D14S65위점、14q23-31적D14S63～D14S74위점간구역검측도적LOH솔최고,분별위57.1%、 46.7%～47.1%.재본연구중적소유위점,균미검측도미위성불은정.결론염색체14q상적등위기인주실가능재GBM발병궤제중기착중요작용,14q32.1상적D14S65위점、14q23-31상적D14S63～D14S74위점간구역가능존재여GBM상관적다개종류억제기인.
Objective To evaluate whether deletion of chromosome 14q is involved in the carcinogenesis of primary glioblastoma multiforme and to identify possibly common deletion regions.Methods Fourteen fluorescent dye-labeled polymorphic markers were used and polymerase chain reaction-based microsatellite analysis was employed to investigate loss of heterozygosity (LOH) on chromosome 14q in 20 primary glioblastoma multiforme (GBM). Results Ten of twenty (50%) GBM displayed LOH at one or more of the markers on chromosome 14q. Five tumors showed either LOH or non-informative on all markers tested. The most frequent LOH was observed at locus D14S65 (57.1%) on 14q32.1, and in the chromosomal region spanning from D14S63 (47.1%) to D14S74 (46.7%) on 14q23-31. None of the informative loci exhibited microsatellite instability.Conclusions Allelic deletion on chromosome 14q plays an important role in the pathogenesis of GBM. Chromosomal regions at locus D14S65 on 14q32.1 and spanning from D14S63 to D14S74 on 14q23-31 may harbor multiple tumor suppressor genes associated with GBM.