摘要
应用核酸杂交、ＰＣＲ扩增、直接测序等分子生物学技术，分析了林县原发性食管癌和贲门癌及其癌旁组织中抑癌基因ｐ５３分子结构的改变。用Ｓｏｕｔｈｅｒｎ杂交法分析的３５例食管鳞癌和２７例食管癌旁上皮组织中的ｐ５３基因，发现５／３５癌组织中有该基因缺失或重排变化，占１４．５％；２／２７食管癌旁组织中，有１例ｐ５３基因缺失，１例重排结构性改变，占７．４％。上述食管鳞癌标本，用ＰＣＲ直接测序，发现５０％（１５／３０）的食管鳞癌有ｐ５３基因的５～９外显子和相应内含子突变。４５％（５／１１）食管癌旁组织中有ｐ５３基因突变。另有１例食管腺癌，有ｐ５３基因突变。４例贲门癌组织中，３例有ｐ５３基因突变，１例贲门癌旁组织有ｐ５３基因突变。ｐ５３基因的突变谱：３６．４％（８／２２）的食管鳞癌ｐ５３突变是Ｇ：Ｃ→Ａ：Ｔ的置换突变，２７．３％（８／２２）的ｐ５３突变为Ｇ：Ｃ→Ｔ：Ａ的颠换突变。２２．７％（５／２２）的ｐ５３突变为移码突变，其中１３．６％（３／２２）为插入性移码突变，９．１％（２／２２）为丢失性移码突变。在食管癌中，发现一些新的ｐ５３基因突变位点。研究结果表明：ｐ５３基因在食管和贲门的癌变中起重要作用。
Abstract p53 gene in human esophageal cancer (EC)
and cancer of gastric cardia was analyzed. South-ern blotting hybridization revealed that five of
35 of EC sample were found to contain abnormal structure of p53 gene, including 2 deletions
and 3 rearrangements; two of 27 adjacent non-tumortissues also contain abnormal structure of
p53 gene(7.4%),among them one case was fragementdeletion and another case was
rearrangement. PCR-direct sequencing technique was used to de-tect p53 point mutation within
exon and intron 5 through 9.Fifteen of 30(50%)of esophagealsquamous cell carcinomas
contained mutation of p53 gene. Five of 11(45%)adjacent non-tumor tissues also contained
mutation of p53 gene. An esophageal adenocarcinoma showed p53 mutation.Three of 4
carcinoma of gastric cardia showed p53 mutation .Mutation spectrum in EC:8of 22 cases
(36.4%)of p53 mutation were G.C to A: T transition, 6 of 22 cases (27.3%)ofp53 mutation were
frameshift mutation,including 13.6%(3/22)insertion and 9.1%(2/22)deletionmutation. Some new
sites of p53 mutation in human EC were identified.The results suggest that the p53 gene plays
an important role in carcinogenesis of human esophagus and gastric cardia.
出处
《中华肿瘤杂志》
CAS
CSCD
北大核心
1994年第3期172-176,T007,共6页
Chinese Journal of Oncology
基金
国家"八.五"科技攻关资助课题
