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目的 乳腺癌易感基因 (BRCA1基因 )是一种抑癌基因。本研究检测BRCA1基因在乳腺癌中的突变情况 ,探讨BRCA1基因突变与乳腺癌的关系。方法 选取 89例乳腺癌患者标本作实验组 ,另取非癌乳腺组织标本 30例作对照组。每一例标本分别捣碎 ,分别用酚 -氯仿抽提法提取DNA ,每例DNA用PCR扩增BRCA1基因的 2、5、1 7、2 0等 4个外显子。分别将每例病人每个外显子的PCR扩增产物进行SSCP分析 ,对出现异常区带的PCR扩增产物进行DNA测序 ,与基因库序列比对分析其突变情况。结果 30例非癌乳腺组织未检测出BRCA1基因突变 ,89例乳腺癌共检测出 4例突变 ,其中 2例为 5外显子的错义突变 (2 73C >G ,2 87A >T) ,2例为 1 7外显子的错义突变 (5 1 1 5T >C ,5 1 1 6A >G)。乳腺癌BRCA1的基因突变率为 4 5 %(4 / 89)。结论 BRCA1突变与乳腺癌有关系 ,检测BRCA1基因突变对于乳腺癌患病风险评估及早期诊断具有重要意义
The purpose of breast cancer susceptibility gene (BRCA1 gene) is a tumor suppressor gene. This study examined the mutation of BRCA1 in breast cancer and explored the relationship between BRCA1 mutation and breast cancer. Methods Eighty-nine breast cancer samples were selected as the experimental group and 30 non-cancerous breast tissue samples as the control group. Each sample was crushed, respectively, with phenol - chloroform extraction of DNA extraction, DNA PCR amplification of BRCA1 gene for each 2, 5,1 7,2 0 other four exons. The PCR products of each exon of each patient were analyzed by SSCP, and the products of PCR amplification of abnormal bands were sequenced. The mutations were compared with the sequences of gene banks. Results No mutation of BRCA1 gene was detected in 30 cases of non-cancerous breast tissues. Four mutations were detected in 89 cases of breast cancer, of which 2 cases were missense mutations of 5 exons (2 73 C> 2 87 A> T), 2 An example is the missense mutation of the 1 7 exon (5 1 1 5T> C, 5 1 1 6A> G). The gene mutation rate of breast cancer BRCA1 was 45% (4/89). Conclusion The relationship between BRCA1 mutation and breast cancer is of great significance for the assessment of BRCA1 mutation risk and early diagnosis of breast cancer