PCR-SSCP方法检测散发性结直肠癌APC基因MCR区段突变  

PCR-SSCP analysis of the MCR region of APC mutation in sporadic colorectal cancer

作　　者：唐卫中[1] 高枫[1] 李卫[2] 唐宗江[1] 

机构地区：[1]广西医科大学第一附属医院结直肠肛门外科,南宁市530021 [2]广西医科大学第一附属医院实验中心,南宁市530021

出　　处：《广西医学》2007年第6期792-794,F0003,共4页Guangxi Medical Journal

摘　　要：目的 检测散发性结直肠癌APC基因MCR区段突变情况。方法 应用常规酚、氯仿法提取48例散发性结直肠癌组织及相应正常黏膜组织的DNA。聚合酶链反应（PCn）扩增、单链构象多态性（SSCP）电泳和DNA直接测序，检测APC基因第15外显子MCR区段的突变情况。结果 48例结直肠癌中有11例发生APC基因突变，APC基因第15外显子MCR区段突变发生在codon 1 311—1556之间，突变类型有碱基置换突变（G〉T、C〉T）、移码突变（-A、-C、-T、＋A、＋CGTT、-TGTGAGcG），48例中有1例发生2个密码子突变。结论 散发性结直肠癌APC基因MCR区段突变率为22．9％（11／48），以体细胞突变为主，APC基因MCR区段突变主要集中在codon 1 311-1556。Objective To detect the MCR region of APC mutation in sporadic colorectal cancer. Methods DNA from 48 patients with sporadic colorectal cancer was extracted by standard phenol/chloroform method. APC gene was amplified by using polymerase chain reaction-single strand conformation polymorphism （PCR-SSCP） and DNA direct sequencing. Mutations in mutation cluster region （MCR） of exon 15 were analyzed. Results The mutation occurred in 11 of 48 cases. Mutations of the MCR region lay from codon 1 311 to 1 556. The types of mutation include point mutation and transfer mutation,one in 48 cases occurred 2 codons mutation. The base substitution muta- tions included： G 〉 T and C 〉 T, the shift mutations included： - A, - C, - T, ＋ A, ＋ CGTT, - TGTGAC, CG. Conclusion The frequency of the MCR region of APC gene mutation in sporadic colorectal cancer was 22.9% （11/48）. The somatic mutations occupied the moat among all mutations of colorectal cancer. The mutations of the MCR region were localized from codon 1 311 to 1 556.

关 键 词：聚合酶链反应-单链构象多态性 结直肠癌 APC基因 MCR区段 基因突变 

分 类 号：R735.37[医药卫生—肿瘤]