【摘要】 目的 :探讨高发区食管癌标本中p5 3基因的突变状况及其与危险因素的关系 .方法 :采用PCR扩增产物纯化后直接DNA序列测定技术对河南省林州市 4 0例食管癌标本p5 3基因第五外显子突变情况进行检测 .结果 :4 0例食管癌标本中 ,有 8例标本 10个位点发生突变 ,突变率为 2 0 % (8/4 0 ) .10个突变中 9个为点突变 ,1个为插入突变 .突变大多发生在G :C碱基对 ,G :C→A :T的置换最多 ,占 5 / 9,A :T→T :A的颠换占 3/ 9,G :C→C :G的颠换占 1/ 9.p5 3基因第五外显子突变与性别、年龄、食管癌家族史和吸烟无显著联系 (P >0 .0 5 ) ,但与食用酸菜有密切联系 (P <0 .0 5 ) ,其OR值为 5 .95(1.13～ 31.2 6 ) .结论 :高发区食管癌标本中 p5 3基因第五外显子突变位点较为分散 ,经常食用酸菜可引起 p5 3基因突变更多还原

【Abstract】 AIM: To find out the relationship between p 53 gene mutations and the risk factors of esophageal cancer (EC) in high incidence area. METHODS: Polymerase chain reaction (PCR) direct sequencing technique was used to detect the alteration of p 53 gene exon 5 for 40 EC specimens from Linzhou City, Henan Province. RESULTS: Mutations of p 53 gene exon 5 were detected in 8 (10 sites) of 40 (20%) EC specimens. Most base substitutions occurred at G:C base pair. Nine of the 10 sites were point mutation and 1 of the 10 was insert mutation. The proportions of G∶C→A∶T,A∶T→T∶A and G∶C→C∶G were 5/9, 3/3 and 1/9, respectively. No association was found between p 53 gene mutation and sex, age, family history and smoking ( P >0.05). But p 53 gene mutations was found strongly associated with the eating of pickled vegetables ( P >0.05) and the odds ratio ( OR ) was 5.95(95% C I: 1.13～31.26). CONCLUSION: The site of mutations of exon 5 within p 53 gene disperses and eating pickled vegetables may lead to p 53 gene mutations.更多还原