散发性卵巢癌中BRCA1基因突变的研究.doc

散发性卵巢癌中BRCA1基因突变的研究 【摘要】检测BRCA1基因第2外显子和第20外显子在散发性卵巢癌中的突变情况，探讨其与卵巢癌发病的关系。方法:采用PCR－SSCP（聚合酶链反应－单链构象多态性分析）结合银染的方法，对36例无血缘关系的卵巢癌患者BRCA1基因第2、20外显子进行突变检测。 结果:在外显子2和20的序列中未发现有突变。 结论:在Ashkenazi犹太妇女中发现的两个突变热点185delAG和5382insC可能不是中国散发性卵巢癌患者的突变热点，说明外显子2和20上的序列对中国人群散发性卵巢癌发生的影响不大，有待于在中国散发性卵巢癌患者中寻找BRCA1基因的新的突变热点。 【关键词】 卵巢癌 BRCA1 PCR－SSCP A Study on the Mutation of BRCA1 Gene in Sporadic Ovarian Carcinoma ZHANG Zhuqiang1 ,YUE Xiulan1 ,CAO Hongran2 ,BAI Xuefeng2 （1.Department of Biochemistry, Baotou Medical College,Baotou 014010,China； 2.Department of Pathology,the Seventh Hospital）Abstract Objective:To detect the mutation in two exons of BRCA1 gene (first one and 20th one)in sporadic ovarian carcinoma, and to study the relationship between BRCA1 mutation and ovarian carcinoma. Methods: 36 patients with ovarian carcinoma without blood relationship were randomly selected and polymerase chain reaction(PCR) Single-strand conformational polymorphism(SSCP) was used to test the mutation of exons 2 and 20 of BRCA1. Results: No mutations were found in exons 2 and 20. Conclusion: 185 delAG and 5382 insC which were found to be high mutation sites in Ashkenazi Jewish women are not high ones in China. It is indicated that gene sequence of what we have studied doesnt account much for occurrence of the sporadic ovarian carcinoma in the population of China. It is important to find new mutations in the sporadic patients of ovarian carcinoma in China.Key wordsOvarian carcinoma；BRCA1；PCR-SSCP BRCA1（breast and ovarian cancer susceptibility gene）基因是遗传性乳腺癌和卵巢癌的易感基因，其突变与30%~50%的家族性乳腺癌、卵巢癌有关，而且突变率与家族中具有乳腺癌和卵巢癌病史的人数呈正相关。研究表明，BRCA1基因胚系突变与几乎所有遗传性乳腺癌－卵巢癌综合征相关，且主要在遗传性早发性卵巢癌中起作用[1]。而针对散发性卵巢癌中检测出BRCA1基因突变的报道并不多见，且其与散发性卵巢癌的关系仍不能确定。曾有研究表明，不到10%的散发性卵巢癌与BRCA1基因突变有关[2]，但其确切功能和作用机制尚不清楚。为了探讨散发性卵巢癌患者BRCA1的突变情况，本文采用PCR-SSCP结合银染的方法，检测了36例散发性卵巢癌患者BRCA1基因的突变情况。 1材料与方法 1.1 检测标本36例卵巢癌新鲜组织标本取自2005年1月至2006年9月间在包头市第七医院、包钢医院及内蒙古医学院第一附属医院住院手术的患者，经病理确诊均为卵巢癌,其中浆液性囊腺癌12例，黏液性囊腺癌7例，子宫内膜样癌9例，恶性畸胎瘤3例，颗粒细胞癌5例。年龄28~75岁，中位年龄46.5岁。按照