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妇科肿瘤患者肿瘤组织中线粒体DNA突变的研究

[Study on the mitochondrion DNA mutation in tumor tissues of gynecologic oncology patients].

作者信息

Li Hong-xia, Zhong Sheng, Li Chun-hai

机构信息

Department of Obstetrics and Gynecology, BeiJing Railway General Hospital, Beijing 100038, China.

出版信息

Zhonghua Fu Chan Ke Za Zhi. 2003 May;38(5):290-3.

Abstract

OBJECTIVE

To investigate the mitochondrion DNA (mtDNA) mutation in tumor tissues of gynecologic oncology patients and their relationship to tumorigenesis and tumor development.

METHODS

The samples of tumor tissue and their proximal normal tissue of 32 gynecological malignant tumor patients as well as 8 gynecological benign tumor patients were taken. The malignants were 5 squamous cervical carcinomas, 10 endometrial carcinomas and 17 epithelial ovarian cancers (EOC). The benign tumors were 4 ovarian epithelial tumors and 4 uterine myomas. Polymerase chain reaction-single strain conformation polymorphism (PCR-SSCP) and DNA sequencing were done to examine mtDNA mutation.

RESULTS

The mtDNA mutation rate and polymorphism rate were 68.8% and 56.3% respectively in 32 cases of malignants. The mtDNA mutation rate and polymorphism rate were 2/8 and 4/8 respectively in 8 cases of benigns. The difference between malignants and benigns was significant (P < 0.05). The hot point of mtDNA mutation were located in Cytb gene region. The characteristic mtDNA mutation is multigene and multisites mutation. The mojarity (63.6%) of patients involved in 2 more gene mutation.

CONCLUSIONS

There is high frequent mtDNA coding area mutation in gynecological malignant tumors, indicating that mtDNA coding region mutation is closely related to gynecological malignants development and progression. It may be an important extra nuclear molecular genetic alteration in mechanisms of tumorigenesis.

摘要

目的

探讨妇科肿瘤患者肿瘤组织中线粒体DNA(mtDNA)突变情况及其与肿瘤发生发展的关系。

方法

采集32例妇科恶性肿瘤患者及8例妇科良性肿瘤患者的肿瘤组织及其癌旁正常组织样本。恶性肿瘤患者包括5例宫颈鳞癌、10例子宫内膜癌和17例上皮性卵巢癌(EOC)。良性肿瘤患者包括4例卵巢上皮性肿瘤和4例子宫肌瘤。采用聚合酶链反应-单链构象多态性(PCR-SSCP)及DNA测序检测mtDNA突变。

结果

32例恶性肿瘤患者mtDNA突变率和多态性率分别为68.8%和56.3%。8例良性肿瘤患者mtDNA突变率和多态性率分别为2/8和4/8。恶性肿瘤与良性肿瘤之间差异有统计学意义(P<0.05)。mtDNA突变热点位于细胞色素b(Cytb)基因区域。mtDNA特征性突变表现为多基因、多位点突变。多数(63.6%)患者存在2个以上基因的突变。

结论

妇科恶性肿瘤中mtDNA编码区存在高频突变,提示mtDNA编码区突变与妇科恶性肿瘤的发生发展密切相关。其可能是肿瘤发生机制中一种重要的核外分子遗传学改变。

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