DHPLC检测林州市高龄组和低龄组居民食管癌p53基因外显子突变谱的比较研究  

Screening the mutations of all the coding exons of p53 in esophageal carcinomas of older and younger patients from Linzhou by DHPLC

作　　者：杨胜利[1] 谭家驹[1] 徐致祥[1] 杨劼[1] 郭黎平[2] 陆士新[2] 

机构地区：[1]佛山市第一人民医院胸外科中山大学附属佛山医院,广东佛山528000 [2]中国医学科学院肿瘤医院病因室,北京100021

出　　处：《中华肿瘤防治杂志》2007年第24期1846-1850,共5页Chinese Journal of Cancer Prevention and Treatment

基　　金：广东省自然科学基金项目(04008530);佛山市科委重点公关项目(02080061)

摘　　要：目的:研究我国食管癌高发区林州市居民高龄食管癌患者与低龄食管癌患者中抑癌基因p53全部编码外显子基因突变谱的情况,比较两组患者中p53基因突变的差异。方法:留取林州市>70岁和<40岁、低年龄组食管癌患者食管癌新鲜标本51例,提取DNA,PCR扩增p53第2～11外显子。DHPLC进行突变的筛查。突变样本进行DNA纯化测序分析。结果:51例患者中,p53至少有1个外显子基因突变的36例,突变率为70.6%。高年龄组突变率为63.3%(19/30),低年龄组突变率为80.9%(17/21),两者比较无统计学意义(P>0.05)。p53有2个外显子基因突变的10例,突变率为17.6%。高年龄组突变率为26.7%(8/30),低年龄组突变率为9.5%,两者比较无统计学意义,P>0.05。结论:p53基因突变是林州市居民食管癌发生过程中的一个发生频率很高的事件。林州市居民的p53外显子突变谱中,共有15种突变类型,共计59个突变位点,其中最多的突变类型是插入碱基C。在p53基因第2～8外显子与内含子交界的非编码区有大量的基因突变。OBJECTIVE： To detect all the mutations of all the coding exons of p53 in esophageal carcinomas of older and younger patients from Linzhou by DHPLC, and compare the differences of the mutations of p53 between the two groups. METHODS： Fifty-one tumor specimens of esophageal carcinoma obtainded from patients over 70 years old and below 40 years old from Linzhou. DNA from tissues was isolated. Fragments of all the coding exons from exon 2 to exon 11 of p53 were amplificated with PCR system. PCR products were screened by DHPLC to detect the mutations. The samples with mutations were purified and sequenced. RESULTS： The rate that have at least one exon mutated of the p53 was 70.6%. In group of older patients, the rate was 63. 3% （19/30）, while in younger group, the rate was 80.9%（17/21）, but there was no difference in statistical significance between the two groups （P〉 0.05）. The rate that have two exons mutated of all the 51 patients, was 17.6%（10/51）. In group of older patients,the rate was 26.7% （8/30）, while in younger group, the rate was 9. 5% （2/21）, but there was still no difference in statistical significance between the two groups （P〉0.05）. CONCLUSIONS： The mutations of p53 are frequent events in esophageal carcinoma in the patients from Linzhou. There are 15 different types of mutations in all the p53 mutations of the 51 patients, and it contains total 59 mutations. The most common mutated type is insert C. Many mutations are also found in noncoding regions exons/intron boundaries.

关 键 词：食管肿瘤 变性高效液相色谱 基因突变 P53 

分 类 号：R735.1[医药卫生—肿瘤]