Brg1在Peutz-Jeghers综合征息肉组织中的蛋白表达及基因突变  

Protein expression and gene mutation of Brg1 in Peutz-Jeghers syndrome

作　　者：刘金霞[1] 张凡[2] 周平[1] 夏廷毅[1] 毛高平[3] 

机构地区：[1]中国人民解放军空军总医院肿瘤放疗科,北京市100142 [2]商丘医学高等专科学校,河南省商丘市476000 [3]中国人民解放军空军总医院消化科,北京市100142

出　　处：《世界华人消化杂志》2012年第25期2353-2357,共5页World Chinese Journal of Digestology

基　　金：全军十一五面上课题基金资助项目;No.06MA032~~

摘　　要：目的:研究Brg1(Brahma-related gene1)基因在Peutz-Jeghers综合征(Peutz-Jeghers syndrome,PJS)息肉组织中蛋白表达及基因突变的意义,探讨其与肿瘤发生的关系.方法:应用免疫组织化学技术分析72例PJS息肉组织Brg1蛋白的表达,同时应用PCR-DNA技术检测39例PJS息肉和2例癌变组织中Brg1基因第4和10外显子的基因突变,初步探讨其和PJS发生、发展及预后的关系.结果:Brg1蛋白在PJS息肉中的表达率为54.17%(39/72),与小肠腺癌的表达率(76.67%)相比明显降低,与正常组织的表达率(16.67%)相比明显增高;PJS息肉组和正常小肠黏膜组Brg1蛋白阳性表达差异有统计学意义(P<0.05);PJS息肉组和小肠癌组Brg1蛋白阳性表达差异有统计学意义(P<0.05).39例PJS息肉标本和2例癌变标本中,Brg1第4和10外显子的基因突变率为零.结论:Brg1蛋白在PJS息肉中高表达并对PJS的发生发展起着重要作用,但Brg1基因突变在PJS中少见,Brg1蛋白的表达可作为判断PJS息肉恶变及预后的重要指标.AIM： To investigate the protein expression and gene mutation of Brahma-related gene 1 （Brgl） in Peutz-Jeghers syndrome （PJS）, and to analyze their relation with tumor development. METHODS： The expression of Brgl protein in 72 cases of PJS polyps was detected by immunohis- tochemistry. Mutations in exons 4 and 10 of the Brgl gene was detected by means of polymerase chain reaction-direct sequencing （PCR-DNA） in 39 cases of PJS polyps and 2 cases of carcinoma.RESULTS： The positive rate of Brgl protein ex- pression in PJS （54.17%） was lower than that in adenocarcinoma （76.67%） but higher than that in normal tissue （16.67%）. There was a significant difference in the positive rate of Brgl protein ex- pression among the three groups （P 〈 0.05）. No Brgl gene mutations were detected in 39 cases of PJS polyps and 2 cases of carcinoma.CONCLUSION： Increased expression of Brgl protein in PJS may be associated with the de- velopment of this disease. Brgl gene mutations might be rare in PJS. Brgl expression can be used as an important parameter for differentiat- ing malignancy and evaluating prognosis of PJS.

关 键 词：PEUTZ-JEGHERS综合征 Brm相关基因1 免疫组织化学 聚合酶链反应 基因突变 

分 类 号：R735.3[医药卫生—肿瘤]