散发性卵巢癌中BRCA1基因突变的研究

目的: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.

A Study on the Mutation of BRCA1 Gene in Sporadic Ovarian Carcinoma

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 doesn't 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.