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目的:检测乳腺癌组织CTSD基因增强子区遗传和表遗传学改变,探讨其与乳腺癌转移的关系。方法:取152例乳腺癌标本及对应的癌旁组织,采用PCR扩增技术对CTSD基因增强子区进行扩增,产物进行基因测序。应用甲基化特异性限制性内切酶酶切联合PCR扩增技术,观察乳腺癌组织CTSD基因增强子区去甲基化状态。结果:遗传学改变研究表明,CTSD基因增强子区基因片段测序结果显示未发现有意义的突变位点。表遗传研究表明,转移乳腺癌组织中增强子区去甲基化发生率为85.3%,癌旁组织为0,两者差别有显著统计学意义(P<0.05)。未转移乳腺癌去甲基化发生率为51.9%,相较于癌旁组织,差别有统计学意义(P<0.05)。转移和未转移乳腺癌去甲基化发生率相比,差别也有统计学意义(P<0.05)。结论:CTSD基因增强子区的功能调控不受遗传学突变的影响,其去甲基化率与乳腺癌的转移有关,有望成为乳腺癌的一个预后指标。
OBJECTIVE: To detect the genetic and epigenetic changes of CTSD gene enhancer region in breast cancer and to explore its relationship with breast cancer metastasis. Methods: 152 cases of breast cancer specimens and corresponding paracancerous tissues were taken. The CTSD gene enhancer region was amplified by PCR and the products were sequenced. Methylation-specific restriction endonuclease digestion and PCR amplification were used to observe the demethylation status of CTSD gene enhancer region in breast cancer. Results: The study of genetic alteration showed that the sequencing results of the gene fragment of CTSD gene enhancer showed no significant mutation sites were found. Epidemiological studies showed that the incidence of demethylation in metastatic breast cancer tissues was 85.3% and that in paracancerous tissues was 0, the difference was statistically significant (P <0.05). The incidence of demethylation in non-metastatic breast cancer was 51.9%, which was significantly different from that in paracancerous tissues (P <0.05). There was also a significant difference between the incidence of demethylation and non-metastasis (P <0.05). Conclusion: The functional regulation of CTSD gene enhancer region is not affected by genetic mutation. The demethylation rate of CTSD gene is related to the metastasis of breast cancer and may be a prognostic indicator of breast cancer.