粪便中p53基因突变检测对大肠癌筛选的诊断价值

Early diagnostic value of p53 gene mutations in the stool to patients with colorectal carcinoma

目的 探讨人粪便中 p5 3基因突变的检测用于大肠癌早期筛选诊断的可行性。 方法从 2 0例大肠癌手术切除肿瘤组织和术前粪便中分别提取DNA ,应用基因扩增 单链多态性分析 溴乙锭 (PCR SSCP EB)染色方法检测癌组织和粪便中 p5 3基因的扩增及外显因子 5～ 8的突变。 结果 2 0例大肠癌组织均有p5 35～ 8特异性扩增产物 ( 10 0 % ) ,其中有 12例发生突变 ,突变率为60 % ;2 0例粪便标本 16例有 p5 3特异性扩增产物 ( 80 % ) ,8例检测到相同的基因突变 ,其 p5 3突变检出的敏感性为 66.7% .结论 粪便中 p5 3基因突变的检测 ,具有取材方便、敏感性较高的优势 ,为大肠癌的筛选提供了一条新途径。

Objective To evaluate the possibility of mutations of p53 gene in stool for screening early colorectal carcinoma. Methods Surgicully resected tumor specimens and stool sa mples from 20 patients with colorectal carcinoma were examined for mutations of exons 5～8 of p53 gene by polymerase chain reaction single strand conformation p olymorphism (PCR-SSCP) and ethidium bromide (EB) staining. Results Twenty patients with colorectal cancer all had specific amplified production of p53 gene (100%). Mutations of p53 gene occurre d in 12 cases (60%). Of the 20 stool specimens, 16 cases had specific amplified production of p53 (80%), 8 had the same gene mutations. The sensitivity for p5 3 mutation detection was 66.7%. Conclusion The analysis of p53 gene mutation in stool ha d the superiority of taking easily sample and high sensityvity. It is expected t o serve as a new way of screening for colorectal carcinoma.