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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 4 6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 4 6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 74 4位CG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 4 5 7% ,6例测序样本皆表现为系第 14116位CT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。
Objective To investigate the mutation frequency of bcl 10 gene in early and advanced human hepatocellular carcinoma. Methods Genomic DNA was extracted from 46 fresh hepatocellular carcinoma and pericancerous tissues. Polymerase chain reaction single-strand conformation polymorphism was used to analyze the mutations of the three exons of bcl 10 gene. Subsequent sampling of 6 mutations was performed for sequencing analysis. Simultaneous analysis of bcl 10 gene mutations and serum alpha-fetoprotein levels and liver cancer size relationship. Results A total of 26 cases of hepatocellular carcinoma detected 26 cases of exon 1 mutations, accounting for 565 percent. Among the 6 samples sequenced in 5 cases, there were 5 74 4 C G transversion mutations; exons. 2 mutations were 25 cases, accounting for 544%. Among the 6 samples in sequencing, 4 cases showed 1311 T-base deletion mutations; exon 3 mutations were 21 cases, accounting for 45.7%, 6 sequencing samples. All were presented as the 14th-order CT transition mutation. Statistical analysis showed no correlation between bcl 10 mutations and serum alpha-fetoprotein levels and liver cancer size. Conclusion The bcl 10 gene has a high frequency of mutation in liver cancer.