乳腺癌组织BRCA1、BRCA2基因区域杂合性缺失的研究

LOSS OF HETEROZYGOSITY AT BRCA1 AND BRCA2 LOCI OF BREAST CANCER

目的 研究乳腺癌组织BRCA1、BRCA2基因区域的杂合性缺失 (LOH)情况。方法 采用聚合酶链式反应(PCR)和聚丙烯酰胺凝胶电泳 ,对 30例散发性乳腺癌和 2例姐妹乳腺癌进行LOH的检测 ,同时还采用G显带法对姐妹乳腺癌患者的外周血淋巴细胞染色体畸变情况进行分析。结果 在散发性乳腺癌中 ,BRCA1、BRCA2基因区域的杂合性缺失率分别为 6 12 %和 5 77% ;姐妹二人乳腺癌组织在BRCA2基因区域的D13S173位点处存在LOH ,且她们的外周血淋巴细胞发生了大量的稳定性和非稳定性畸变 ,畸变率远远高于自发畸变率。结论 乳腺癌易感机理在东西方种族有可能存在差异 。

Objective To investigate the status of loss of heterozygosity (LOH) at BRCA1 and BRCA2 gene loci of breast cancer. 30 pairs of sporadic breast tumors and their normal breast tissues and 2 pairs of samples from one sib (2 sisters) were obtained. Methods Polymerase chain reaction (PCR) and polyacrylamide gel electrophoresis were used to detect LOH, Gbanding technique was used to detect the chromosome aberration of peripheral blood lymphocyte. Results The frequencies of LOHs at BRCA1 and BRCA2 loci in sporadic breast cancer were 6.12 % and 5.77 % respectively. In the sib, both sisters' LOHs emerged at D13S173 locus, meanwhile, a larger number of chromosome aberration was observed, the rates are significantly larger than that for background. Conclusion The mechanism of breast cancer susceptibility may be different between western and eastern women.$$$$