Cui J, Shen F, Jiang F, Wang Y, Bian J, Shen Z
Department of Epidemiology, Shanghai Medical University, Shanghai, 200032 P. R. China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 1998 Dec 10;15(6):348-50.
To shed light on the relationship between BRCA1 gene and breast cancer in Chinese Han women.
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.
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.
All of these suggest that breast cancer in Chinese be somehow linked to BRCA1.
探讨中国汉族女性中BRCA1基因与乳腺癌的关系。
采用BRCA1基因内的4个微卫星DNA（D17S855、D17S579、D17S1327和THRA1）作为多态性标记。运用聚合酶链反应-聚丙烯酰胺尿素凝胶电泳（PCR-PAUGE-DNA银染）法，对50例乳腺癌患者上述4个微卫星位点的杂合性缺失（LOH）和微卫星不稳定性（MSI）进行研究。
29例（58%）信息充分的病例显示有LOH；信息充分的病例中，分别有35.71%、15.38%、18.18%和26.19%在D17S855、D17S579、D17S1327和THRA1位点显示阳性LOH。MSI发生率为46%，4个位点的MSI发生率分别为16%、18%、18%和12%。对LOH和MSI现象与不同临床分期之间的关联进行进一步研究发现，MSI是乳腺肿瘤发生的早期事件，而LOH发生在较晚阶段。
所有这些表明中国女性乳腺癌在某种程度上与BRCA1相关。
