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目的 :了解甲状腺癌与 p5 3基因突变的关系。方法 :用聚合酶链式反应 -双链DNA直接测序方法对甲状腺癌标本进行 p5 3基因外显子 5 ,6 ,7,8序列分析 ,共检测甲状腺癌活检组织标本 2 5例 ,石蜡包埋组织标本 16例 ,正常人外周血标本 31例。结果 :正常人外周血标本未发现 p5 3基因突变 ,43例甲状腺癌标本发现p5 3基因外显子 8点突变 11例 ,外显子 7点突变 2例 ,缺失 3个bp1例。总阳性率达 34 15 %。其中位于外显子 8上的第 2 73位密码子突变 7例 ,占突变的 5 0 % ,最多见。结论 :p5 3基因外显子 7和 8突变在甲状腺癌组织细胞中较常见 ,特异性好 ,提示p5 3基因外显子 7,8测序对甲状腺癌的诊断有一定的参考价值
Objective : To understand the relationship between thyroid cancer and p53 gene mutation. METHODS: The p53 gene exons 5, 6, 7, and 8 were sequenced using polymerase chain reaction-double-stranded DNA direct sequencing. Twenty-five cases of thyroid cancer biopsy specimens were examined and embedded in paraffin. Tissue specimens were obtained in 16 cases, and 31 specimens of peripheral blood were collected from normal subjects. Results: No p53 gene mutations were found in normal human peripheral blood samples. In 43 cases of thyroid cancer specimens, 11 cases of exon 8 mutations of p53 gene, 2 cases of exon 7 mutations and 3 cases of deletion of 1 bp were found. The total positive rate reached 34 15%. Among them, 7 mutations located at codon 2 of exon 8 accounted for 50% of mutations, the most common. Conclusion : The mutations of exon 7 and 8 of p53 gene are more common in thyroid cancer tissue cells and their specificity is better. It is suggested that the exon 7 of p53 gene has certain reference value for the diagnosis of thyroid cancer.