神经纤维瘤病患者染色体脆性部位的研究  

Study on Chromosomal Fragile Sites of Lymphocytes in Patients with Neuroribromatosis

作　　者：郑丽芳[1] 刘晓音[1] 曹志翔[2] 周连举[2] 

机构地区：[1]齐齐哈尔医学院遗传教研室,黑龙江邮政编码161041 [2]齐齐哈尔医学院附属一院皮肤科

出　　处：《中华皮肤科杂志》1994年第3期141-143,共3页Chinese Journal of Dermatology

摘　　要：采用低叶酸的培养条件，对２０例神经纤维瘤病患者及正常人的外周血淋巴细胞染色体畸变及脆性部位进行研究。结果发现①神经纤维瘤病患者平均细胞畸变率为１５．９０％，对照组为２．４５％；实验组脆性部位检出率１４．５％，对照组为２． ４０％。实验组的平均细胞畸变率和脆性部位检出率均高于对照组，差异有高度显著性（ Ｐ ＜０．００５）。②实验组检出７３个脆性部位，有４０个与肿瘤相关断裂点对位；２１个脆性部位与癌基因位点一致；１７个位点上脆性部位、肿瘤相关断裂点及癌基因位点三者是一致的。以上结果提示脆性部位在神经纤维瘤病发病过程中可能起着重要的作用。The rates of chromosome aberration and fragile site expres.sion in lymphocytes of 20 patients with neu- rofibromatosis and the normal control were stud- ied. The results showed that the fragile site expression was 14. 50% in patients and 2. 40% in the controls re- spectively, and the rates of chromosome aberratioll were 15. 90% in patients, but 2. 45% in the con- trols. The chromosome aberration rates and fragile sites of patients were significantly higher than those of the controls (P < 0. 005). Some fragile sites in pa- tients were at the loci of cancer breakpoints and onco- genes. The findings indicate that the fragile sites are important in the pathogenesis of neurofibromatosis.

关 键 词：神经纤维瘤 染色体 脆弱位点 

分 类 号：R730.264[医药卫生—肿瘤]