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目的： 探讨ＢＲＣＡ１ 基因突变在原发性卵巢癌发生中的作用。方法： 应用聚合酶链反应－ 单链构像多态（ＰＣＲ－ ＳＳＣＰ） 银染技术及ＰＣＲ 产物直接序列测定的方法检测了５６ 例原发性卵巢癌ＢＲＣＡ１ 基因第２、５、１１、２１ 外显子区域上的突变情况。结果：１１ 例存在ＰＣＲ－ ＳＳＣＰ 电泳条带异常，经测序确证了ＢＲＣＡ１ 基因突变的性质。ＢＲＣＡ１基因突变率在初诊年龄和临床分期上无显著差异。结论：ＢＲＣＡ１ 基因突变与原发性卵巢癌的发生紧密相关。
Objective: To investigate the role of BRCA1 gene mutation in the pathogenesis of primary ovarian cancer. Methods: Polymerase chain reaction - single strand conformation polymorphism (PCR-SSCP) silver staining technique and PCR product direct sequencing method were used to detect 56 cases of primary ovarian cancer BRCA1 gene outside the first 2,5,11,21 The abrupt change in the area of the exon. Results: There were 11 cases of PCR-SSCP electrophoresis strip abnormalities confirmed by sequencing the nature of BRCA1 gene mutation. There was no significant difference in the mutation rate of BRCA1 between the age at diagnosis and the clinical stage. Conclusion: The mutation of BRCA1 is closely related to the occurrence of primary ovarian cancer.