【作者】 陆云飞； 向俾廷； 曾健； 廖清华； 林坚；

【Author】 Lu Yun-Fei Xiang Pi-Ting Zeng Jian Liao Qing-Hua Lin Jian Department of Gastrointestinal and Glands Surgery, First Affiliated Hospital, Guangxi Medical University, Nanning 530021, China.

【机构】 广西医科大学第一附属医院胃肠腺体外科；

【摘要】 目的:研究细胞周期调定点激酶基因(CHEK2基因)突变与乳腺癌的关系。方法:采取65例乳腺癌组织标本作实验组,21例乳腺良性疾病组织标本和145例正常人血液标本作对照组。全部标本用酚-氯仿抽提法分别提取 DNA。每例DNA用PCR扩增CHEK2基因外显子1、10、 11、13、14。分别对PCR扩增产物进行SSCP分析,对出现泳动变位或异常区带者进行DNA测序,然后与基因库序列对比分析其突变情况。结果:65例乳腺癌共检测出4例突变,1例为CHEK2基因外显子10缺失所致框移突变 (1100del C),3例为CHEK2基因外显子11的插入所致框移突变(1336ins G)。145例正常人检测出1例突变,为 CHEK2基因外显子1的错义突变(252A>G),21例良性疾病患者未发现突变,所有检测对象未发现CHEK2基因外显子13、14有突变。乳腺癌组CHEK2基因突变率为6．15％, 对照组CHEK2基因突变率为0．6％,两组差别有显著性意义,p<0．05。结论:CHEK2基因突变与乳腺癌发病有关。检测CHEK2基因突变对于乳腺癌患病风险评估、早期诊断及基因治疗可能具有重要意义。更多还原

【Abstract】 Objective: To study the cell cycle checkpoint kinase gene (CHEK2 gene) mutation in human breast cancer. Methods: The tissues samples of 65 patients with breast cancer were collected as experiment group, and tissues samples of 21 patients with breast benign disease and blood samples of 145 cases of health persons were randomly selected as control group. DNA of each sample was extracted by the phenol-chloroform method. To determine the concentration and purity of the DNA solution, the absorbance of ultraviolet light is measured by a spectrophotometer. Fragments of CHEK2 gene exon 1, 10,11,13,14 were amplified by polymerase chain reaction ( PCR ). Production of PCR was assayed by single-strand confirmation polymorphism analysis (SSCP), and mutations were conformed by DNA sequencing. The results of DNA sequencing were compared with the gene bank to analyze the CHEK2 gene mutation. Results: Four cases of single nucleotide changes in breast cancer were identified, including 1 frame-shift mutation in exon 10(1100 del C) and 3 insertion mutations in exon 11(1336ins G) of CHEK2 gene. In addition, we found 1 missense mutation in exon 1 (252A>G) of CHEK2 gene in a health person. Other mutations were not identified in the study. The CHEK2 gene mutational rate was 6.15% (4/65) in breast cancer group, and was 0.6% (1/166) in controls, p<0.05. Conclusion: Mutation in CHEK2 is closely related to breast cancer. CHEK2 gene mutation might play an important role in the development of breast cancer in human.更多还原