肝细胞肝癌中bcl-10基因突变的研究  

Study on bcl-10 gene mutation in hepatocellular carcinoma

作　　者：程纪华[1] 冷希圣[1] 蔡胜利[1] 彭吉润[1] 曹广[2] 王申五[3] 杜如昱[1] 

机构地区：[1]北京医科大学人民医院外科,100044 [2]首都医科大学安贞医院普外科 [3]北京医科大学血液病研究所

出　　处：《中华实验外科杂志》2000年第5期398-400,共3页Chinese Journal of Experimental Surgery

摘　　要：目的　研究bcl 10基因在早期和进展期人肝细胞肝癌中的突变频率。方法　提取 46例新鲜肝癌及癌周组织的基因组DNA ,应用聚合酶链式反应 单链构像多态性分析 (PCR SSCP)方法 ,研究bcl 10基因 3个外显子的突变情况 ,并对每个外显子随机抽取 6例突变样本进行测序分析。同时分析bcl 10基因突变与血清甲胎蛋白 (AFP)水平以及肝癌大小的关系。结果　 46例肝细胞肝癌中共检测到外显子 1突变 2 6例 ,占 5 6 .5 % ,6例测序样本中有 5例表现为第 5 744位C→G颠换突变 ;外显子 2突变 2 5例 ,占 5 4.3 % ,6例测序样本中有 4例表现为第 11311位T碱基缺失突变 ;外显子 3突变 2 1例 ,占 45 .7% ,6例测序样本皆表现为第 14116位C→T转换突变。统计分析表明bcl 10突变和血清AFP以及肝癌大小无相关性。结论　bcl 10基因在肝癌中突变频率较高。Objective\ To study the mutation frequency of bcl-10 gene in the early and advanced stage of hepatocellular carcinoma (HCC). Methods\ Genoma DNA samples were extracted from 46 cases of fresh HCC tumor tissues and their non-tumor adjacent tissues. Polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) mehtod was used to detect point mutation of the three exons of bcl-10 gene. For each individual exon, 6 random samples from those showing abnormal DNA bands were sequenced to verify those mutations. The relationship between serum alpha-fetoprotein (AFP) level and bcl-10 mutation, and between the tumor size and bcl-10 mutation was also analyzed respectively. Results\ Among the 46 samples, 26 cases (56.5%) were found to have mutations in exon 1, and 5 out of the 6 cases were showed to have 5744 C→G mutation by sequencing, 25 cases (54.3%) were found to have mutations in exon 2, 4 out of the 6 cases were showed to have 11311 T deletion mutation by sequencing. 21 cases (45.7%) were found to have mutations in exon 3, all of the 6 cases selected for sequencing were showed to have 14116 C→T mutation. Statistical analysis showed that neither serum AFP level nor the size of HCC had significant relation with bcl-10 mutation. Conclusion\ bcl-10 gene has a high mutation frequency in liver cancer.\;

关 键 词：bcl-10基因 肝细胞癌 基因突变 突变频率 

分 类 号：R735.7[医药卫生—肿瘤]