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目的:探讨在散发性乳腺癌患者中乳腺癌易感基因1(breastcancer1,BRCA1)启动子区13个CpG二核苷酸甲基化模式与肿瘤发生的关系。方法:用新发展的甲基化敏感单链构象分析法methylationsensitivesinglestrandconformationanalysis,MSSSCA及DNA测序技术,对66例乳腺癌患者的癌组织、癌旁组织、外周血细胞中的BR-CA1基因启动子区甲基化模式进行研究。结果:发现有3种不同的甲基化模式。其中16例(24.2%)为高度甲基化,3例(4.5%)为部分甲基化,其余为未甲基化。结论:在部分散发性乳腺癌中BRCA1基因是高度甲基化的,它可能是BRCA1基因表达下降的机制之一。
Objective: To investigate the relationship between 13 CpG dinucleotide methylation patterns and tumorigenesis in the breast cancer susceptibility gene 1 (BRCA1) promoter region in sporadic breast cancer patients. METHODS: Using a newly developed methylation-sensitive single-strand conformational analysis method for methylationsensitivesinglestrandconformationanalysis, MSSSCA and DNA sequencing techniques, the BR-CA1 gene promoter methylation in cancer tissues, paracancerous tissues, and peripheral blood cells of 66 breast cancer patients was studied. Research model. Results: Three different methylation patterns were found. Of these, 16 (24.2%) were hypermethylated, 3 (4.5%) were partially methylated, and the rest were unmethylated. Conclusion: The BRCA1 gene is highly methylated in some sporadic breast cancers and it may be one of the mechanisms underlying the decline in BRCA1 gene expression.