石蜡包埋胰腺癌组织中DPC4基因改变的检测

Detection of alterations of the DPC4 gene in paraffin-embedded tissues of pancreatic carcinomas

目的 研究石蜡包埋胰腺癌组织中DPC4基因的改变。方法 用聚合酶链反应 单链构象多态性分析 (PCR SSCP)银染技术检测 46例石蜡包埋胰腺癌组织中DPC4基因的缺失和突变。结果 DPC4基因第 1、2、3、4、8和 11外显子的纯合性缺失率为 13/ 46 (2 8.3% ) ,具体分布为 1例在第 11外显子 ;1例在第 1、11外显子 ;1例在第 2、3外显子 ;1例在第 3、8外显子 ;1例在第 1、2、8外显子 ;1例在第 2、4、11外显子 ;1例在第 3、4、11外显子 ;3例在第 3、4、8外显子 ;1例在第 2、3、4、8外显子 ;1例在第2、3、8、11外显子 ;1例在第 2、3、4、8、11外显子。基因突变率为 10 / 46 (2 1.7% ) ,分布于DPC4基因的第1外显子 1例、第 2外显子 1例、第 8外显子有 3例、第 11外显子 4例、第 4、11外显子 1例。石蜡包埋胰腺癌组织中DPC4基因的总改变率为 2 1/ 46 (4 5 .6 % )。结论 DPC4作为一种抑癌基因 ,其改变在胰腺癌的形成中可能起重要作用。

Objective To examine the alteration and significance of the DPC4 gene in paraffin-embedded tissues of pancreatic carcinomas. Methods Polymerase chain reaction and single-strand conformation polymorphism analysis were used to search for deletions and mutations in the DPC4 gene in 46 cases of pancreatic carcinomas. Results Tirteen of forty-six (28.3%) cases were found to have homozygous deletions in exon 1, 2, 3, 4, 8 and 11. One was in exon 11, one in exon 1 and 11,one in exon 2 and 3, one in exon 3 and 8, one in exon 1,2 and 8, one in exon 2 ,4and 11, one in exon 3,4 and 11, three in exon 3, 4 and 8, one in exon 2, 3, 4, and 8, one in exon 2,3,8 and 11,one in exon 2, 3, 4,8 and 11. Intragenic mutations were found in 10 of 46 cases (21 7%). One case was in exon1, one in exon 2, three in exon 8, four in exon 11, and one in exon 4 and 11. The total frequency of intragenic changes of DPC4 in paraffin-embedded tissues was 45.6% (21/46). Conclusion Inactivation of tumor-suppressor gene DPC4 may play an important role during the tumorigenesis of pancreatic carcinomas.