食管癌组织p53抑癌基因等位基因杂合缺失及突变的研究

Study of Loss of Heterozygosity and Mutation of p53 Tumor Suppressor Gene in Esophageal Cancer

目的：为了探讨ｐ５３抑癌基因在原发性食管癌中的改变以及与食管癌的发生、发展可能存在的关系。方法：采用聚合酶链反应（ＰＣＲ），配合限制性片段长度多态性（ＲＦＬＰ）和单链构象多态性（ＳＳＣＰ）分析法，对４８例新疆地区原发性食管癌及正常组织中ｐ５３抑癌基因的等位基因杂合缺失（ＬＯＨ）及突变进行了检测。结果：ＲＦＬＰ分析显示ｐ５３外显子４和内含子６的ＬＯＨ分别为８／１８和４／１３。ＳＳＣＰ分析显示，ｐ５３外显子５～８的突变率为５０％（２４／４８），且突变多出现在食管癌发展的较晚阶段。结论：ｐ５３基因缺失、突变可能在食管癌发生。

Objective: In order to investigate the mutation of tumor suppressor gene p53 in primary esophageal cancer, and their relationship in the pathogenesis and progression of the disease. Methods: We have performed a restriction fragment length polymorphisms(RFLP) and singlestrand conformation polymorphisms(SSCP) by using the polymerase chain reaction(PCR) to examine loss of heterozygosity(LOH) and mutation from tumor suppressor gene p53 exon 4.5.6.7.8 and intron 6 in 48 patients with primary esophageal cancer. Results: LOH of p53 exon 4 and intron 6 was observed in 8/18 and 4/13 respectively. The mutation affecting p53 5￣8 was observed in 24 of 48 (50%) patients, while the incidence of p53 mutation was mostly present in the late stage of tumors. Conclusions: The allelic deletion and mutation of p53 are involvedin the pathogenesis and progression of esophageal cancer.