中国汉族乳腺癌中BRCA1基因的杂合性丢失和微卫星不稳定性

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。

LOSS OF HETEROZYGOSITY AND MICROSATELLITE INSTABILITY IN THE REGION INCLUDING BRCA1 OF BREAST CANCER IN CHINESE

Objective To shed light on the relationship between BRCA1 gene and breast cancer in Chinese Han women.Methods Four microsatellites DNA(D17S855,D17S579,D17S1327 and THRA1) within the BRCA1 gene were used as polymorphic markers. A study of loss of heterozygosity (LOH) and microsatellite instability (MSI) at the above mentioned 4 microsatellites of 50 breast cancer patients was conducted by using PCR PAUGE DNA silver staining (polymerase chain reaction polyacrylamide urea gel electrophoresis) method.Results Twenty nine or 58% of the informative cases showed LOH. 35 71%,15 38%,18 18% and 26 19% of the informative cases showed positive LOH at the D17S855, D17S579,D17S1327 and THRA1 loci respectively. The rate of MSI was 46% and the rates of MSI at the four loci were 16%, 18%,18% and 12% respectively. Further study on the associations between the phenomena of LOH and MSI and different clinical stages revealed that MSI was an early event in mammary tumorigenesis while LOH occurred at a later stage.Conclusion All of these suggest that breast cancer in Chinese be somehow linked to BRCA1.