食管癌P53基因第5外显子突变分析

Analysis on p53 gene exon 5 mutations in esophageal cancer

目的 分析不同地区食管癌组织中 p5 3基因第 5外显子的突变谱。 方法 采用PCR扩增产物纯化后直接DNA序列测定技术对陕西省西安市 4 2例和河南省林州市 4 3例食管癌标本 p5 3基因第 5外显子突变情况进行检测。结果 西安和林州市食管癌标本中 p5 3基因第 5外显子突变率分别为 14 3% (6 /42 )和 18 6 % (9/43) ,两地突变率比较差异无统计学意义 (P >0 0 5 )。西安 6个突变位点中 4个为点突变 ,2个为缺失突变 ;林州 10个突变位点中9个为点突变 ,1个为插入突变。西安市有 4例突变发生在 12 6～ 12 8位点 ,林州市仅有 2例发生在该区域 (2 /10 ) ,但两者相比差异无统计学意义 (P >0 0 5 )。结论 西安市食管癌 p5 3基因第 5外显子的突变位点相对集中 ,林州市突变位点比较分散 ,可能与该地区多种危险因素的暴露有关。

Objective To analyze p 53 gene exon 5 mutations in esophageal cancer (EC) specimens in Xi'an city and Linzhou city.Methods Polymerase chain reaction (PCR) direct sequencing technique was used to detect the alteration of p 53 gene exon 5 for EC specimens from Xi'an city and Linzhou city.Results Mutation rate of p 53 gene exon 5 mutation in Xi'an and Linzhou EC specimens were 14 3%(6/42) and 18 6%(9/43) respectively, which were not significantly different ( P >0 05).Point mutation was the main mutation type.In Xi'an EC specimens, there were six mutation sites including 4-point mutation and 2 base deletions.In Linzhou EC specimens,there were 10 mutation sites,including 9-point mutation and 1 insert mutation.In Xi'an p 53 gene exon 5 mutations were in 126 to 128 bases (4/6),while in Linzhou EC specimens only two had mutations in thiese sites.But these distributions of mutation sites were not significantly different ( P >0 05).Conclusion The p 53 gene exon 5 mutation sites in Xi'an were relatively concentrated;in Linzhou were relatively scattered in different codes,which might be owing to the great variety of risk factors in this district.