摘要目的本文研究了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-单链构象多态性分析的方法,研究bcl 10基因3个外显子的突变情况,并对每个外显子随即抽取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26例,占56.5%,6例测序样本中有5例表现为第5744位CG颠换突变;外显子2突变25例,占54.3%,6例测序样本中有4例表现为第11?311位T碱基缺失突变;外显子3突变21例,占45.7%,6例测序样本皆表现为系第14?116位CT转换突变.统计分析表明bcl 10突变和血清甲胎蛋白水平以及肝癌大小没有相关关系.结论 bcl 10基因在肝癌中突变频率较高.

abstractsAbstract:Objective To detect the mutation frequency of the bcl 10 gene in the early and advanced stages of hepatocellular carcinoma (HCC).Methods Genome 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 method was used to detect point mutations of the three exons of the bcl 10 gene. For each individual exon, six 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, between the tumor size and bcl 10 mutation was also analyzed.Results Among the 46 samples, 26 cases (56.5%) were found to have mutations in exon 1, 5 out of the 6 cases were shown 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 shown to have 11?311 T deletion mutation by sequencing. Twenty-one cases (45.7%) were found to have mutations in exon 3, all of the 6 cases selected for sequencing were shown to have 14?116 C→T mutation. Statistical analysis showed that neither serum alpha-fetoprotein level nor the size of hepatocellular carcinoma has a significant relationship with bcl 10 mutation.Conclusion The bcl 10 gene has a high mutation frequency in liver cancer.