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目的探讨中国汉族妇女乳腺癌与乳腺癌基因１的关系。方法对ＢＲＣＡ１区域内的４个微卫星多态位点，应用聚合酶链式反应（ＰＣＲ）－聚丙烯酰胺尿素凝胶电泳（ＰＡＵＧＥ）－ＤＮＡ银染方法，对上海市５０例乳腺癌患者进行了ＢＲＣＡ１有关微卫星的ＬＯＨ和ＭＳＩ研究。结果患者中ＬＯＨ的发生率为５８％，ＭＳＩ的发生率为４６％；对患者进行临床分组，发现病期越晚ＬＯＨ率越高，ＭＳＩ与临床分期的关系不很确定。结论提示中国汉族人的乳腺癌的发生同与ＢＲＣＡ１基因相连锁的微卫星ＤＮＡ有关，因而也可能与ＢＲＣＡ１基因的突变有关。
Objective To investigate the relationship between breast cancer and breast cancer gene 1 in Chinese Han women. Methods Four microsatellite polymorphism sites in BRCA1 region were detected by polymerase chain reaction (PCR)-polyacrylamide urea gel electrophoresis (PAUGE)-DNA silver staining method in 50 patients with breast cancer in Shanghai. BRCA1 LOH and MSI studies on microsatellites. Results The incidence of LOH in the patients was 58%, and the incidence of MSI was 46%. Patients were clinically grouped and found that the later the stage of disease was, the higher the LOH rate was, and the relationship between MSI and clinical stage was not very clear. Conclusions suggest that the occurrence of breast cancer in Chinese Han people is related to the microsatellite DNA linked to the BRCA1 gene and may therefore be related to mutations in the BRCA1 gene.