中华皮肤科杂志 ›› 1994, Vol. 27 ›› Issue (3): 141-143,189.

• 论著 • 上一篇    下一篇

神经纤维瘤病患者染色体脆性部位的研究

郑丽芳1, 刘晓音1, 曹志翔2, 周连举2   

  1. 1. 齐齐哈尔医学院遗传教研室 黑龙江 161041;
    2. 齐齐哈尔医学院附属一院皮肤科
  • 收稿日期:1993-05-20 修回日期:1993-10-05 出版日期:1994-06-15 发布日期:1994-06-15

Study on Chromosomal Fragile Sites of Lymphocytes in Patients with Neuroribromatosis

ZHENG Li-Fang1, LIU Xiao-Yin1, CAO Zhi-Xiang2   

  1. Department of Medical Genetics, Qiqihar Medical College, Qiqihar 161041
  • Received:1993-05-20 Revised:1993-10-05 Online:1994-06-15 Published:1994-06-15

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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.

关键词: 神经纤维瘤, 染色体, 脆弱位点

Abstract: The rates of chromosome aberration and fragile site expres.sion in lymphocytes of 20 patients with neurofibromatosis and the normal control were studied.The results showed that the fragile site expression was 14.50% in patients and 2.40% in the controls respectively,and the rates of chromosome aberratioll were 15.90% in patients,but 2.45% in the controls.The chromosome aberration rates and fragile sites of patients were significantly higher than those of the controls (P<0.005).Some fragile sites in patients were at the loci of cancer breakpoints and oncogenes.The findings indicate that the fragile sites are important in the pathogenesis of neurofibromatosis.

Key words: Neurofibroma, Chromosome fragile sites