论文部分内容阅读
目的:探讨TIMP-1突变与临床的相关性。方法:采用PCR-SSCP染色技术和核苷酸序列测定对正常组织、良性卵巢肿瘤组织及恶性卵巢肿瘤组织中TIMP-1基因突变进行检测,并分析TIMP-1基因突变与其临床病理因素的关系。结果:(1)所有的标本TIMP-1第1,2,3编码外显子扩增产物均为一个带型,DNA测序显示未见突变;(2)TIMP-1基因第4外显子在恶性肿瘤组织中突变率为69.2%(27/39),高于良性肿瘤[20%(2/10)]和正常组织的[27.8%(5/18)],差异均有统计学意义(P=0.014,P=0.030);TIMP-1基因第5外显子在恶性肿瘤组织中突变率为61.5%(24/39),显著高于正常组织[22.2%(4/18)](P=0.013),但与良性肿瘤组织[40%(4/10)]比较无统计学差异(P=0.384)。9例(23.1%)编码外显子错译突变全部为卵巢恶性肿瘤。结论:卵巢恶性肿瘤组织中存在TIMP-1编码子突变现象,MMPs和TIMPs之间平衡失调可能与TIMP-1编码子突变有关。
Objective: To investigate the clinical relevance of TIMP-1 mutation. Methods: The mutations of TIMP-1 gene in normal tissue, benign ovarian tumor and malignant ovarian tumor were detected by PCR-SSCP and nucleotide sequencing. The relationship between TIMP-1 gene mutation and clinicopathological factors was analyzed. Results: (1) The exon 1, 2, and 3 of TIMP-1 gene were all a band in DNA sequence, and no mutation was found in DNA sequencing. (2) The exon 4 of TIMP- The mutation rate in malignant tumor was 69.2% (27/39), which was higher than that in benign tumor [20% (2/10)] and normal tissue [27.8% (5/18)], the difference was statistically significant (P = 0.014, P = 0.030). The mutation rate of TIMP-1 gene exon 5 in malignant tumors was 61.5% (24/39), significantly higher than that in normal tissues [22.2% (4/18)] (P = 0.013), but no significant difference compared with benign tumor [40% (4/10)] (P = 0.384). Nine cases (23.1%) of coding exon missense mutations were all ovarian malignancies. Conclusion: TIMP-1 coding mutation exists in ovarian cancer tissues. The imbalance between MMPs and TIMPs may be related to TIMP-1 coding mutation.