髓母细胞瘤11号染色体的杂合性丢失分析  

Analysis of loss of heterozygosity on chromosome 11 in medulloblastomas

作　　者：殷晓璐[1] 许雁萍[1] 朱建善[1] 

机构地区：[1]上海第二医科大学仁济医院病理科,上海200127

出　　处：《上海第二医科大学学报》2004年第B11期31-33,共3页Acta Universitatis Medicinalis Secondae Shanghai

摘　　要：目的研究髓母细胞瘤的遗传学异常 ,以探讨该肿瘤的发病机制。方法应用微卫星灶分析方法 ,研究髓母细胞瘤 11号染色体的杂合性丢失 (LOH)。结果收集 2 0例髓母细胞瘤 ,应用 2 0个特异性标记物对 11号染色体的杂合性丢失进行了分析。结果显示 6 7%的可分析病例具有等位基因的丢失。染色体短臂 (11p)和长臂 (11q)上的杂合性丢失率分别为 2 7%和 13%。同时 ,在 11p13 15 .1上发现了一个共同丢失位点。结论 11p13 15 .1上很可能存在重要的抑癌基因 ,该基因的丢失可能与髓母细胞瘤的发生有关。Objective To detect genetic alterations on medulloblastoma, and to investigate the mechanism of development of this neoplasm. Methods Microsatellite analysis was performed to detect loss of heterozygosity on chromosome 11. Results Twenty medulloblastoma cases were studied using 20 markers mapped to the whole chromosome 11. The result showed that 67% of informative cases revealed allelic loss on at least one locus. The frequencies of loss on chromosome 11p and 11q were 27% and 13%, respectively. Moreover,a common deletion region was found at 11p13-p15.1. Conclusion The result suggested the possibility of the presence of a tumor suppressor gene at 11p13-p15.1. Deletion of this tumor suppressor gene may be associated with the oncogenesis of medulloblastoma.

关 键 词：髓母细胞瘤 杂合性丢失 11号染色体 肿瘤 LOH 特异性标记物 抑癌基因 位点 短臂 微卫星 

分 类 号：R739.4[医药卫生—肿瘤]