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[目的]检测50例乳腺癌患者BRCA1基因exon11突变情况及突变位置,探讨BR-CA1突变与乳腺癌的关系。[方法]采取50例乳腺癌全血标本为实验组,28例非癌乳腺全血标本为对照组。应用PCR和DNA直接测序法检测所有标本BRCA1基因exon11的突变情况。[结果]28例非癌乳腺组织BRCA1基因exon11未检出突变,50例乳腺癌中有6例发生基因突变,占总例数的12.0%。6例中2例发生多个位点突变,19号标本5个突变位点:2685T→C,2201C→T,2731C→T,3232A→G,3667A→G;30号标本2个突变位点:2685T→C;2041T→A。8个位点为错义突变:2532T→C,2685T→C2例,2731C→T,3232A→G,3667A→G2例,2041T→A。3个位点为同义突变:2630T→G2例,2201C→T。发现两个新位点2201位和2731位。[结论]BRCA1基因exon11突变与乳腺癌的发生关系密切,对其进行检测可能对乳腺癌的患病风险评估及早期诊断具有重要意义。
[Objective] To detect the mutation and location of exon11 in BRCA1 gene in 50 cases of breast cancer and explore the relationship between BR-CA1 mutation and breast cancer. [Method] Fifty cases of breast cancer whole blood samples were taken as experimental group and 28 cases of non-cancer breast whole blood samples as control group. The mutation of exon11 in BRCA1 gene was detected by PCR and DNA direct sequencing. [Results] No mutation was found in exon11 of BRCA1 gene in 28 cases of non-cancerous breast tissues, and 6 cases of mutation in 50 cases of breast cancer, accounting for 12.0% of the total cases. Two of the 6 cases had multiple loci mutations. There were 5 loci in the 19 specimens: 2685T → C, 2201C → T, 2731C → T, 3232A → G, 3667A → G; 2685T → C; 2041T → A. Eight sites were missense mutations: 2532T → C, 2685T → C2, 2731C → T, 3232A → G, 3667A → G2 and 2041T → A. Three sites were synonymous mutations: 2630T → G2 cases, 2201C → T. Two new loci were found 2201 and 2731. [Conclusion] The exon11 mutation of BRCA1 gene is closely related to the occurrence of breast cancer, and the detection of BRCA1 gene may be of great significance in the assessment and early diagnosis of breast cancer.