Cohen M M, Sagi M, Ben-Zur Z, Schaap T, Voss R, Kohn G, Ben-Bassat H
Cytogenet Cell Genet. 1979;23(1-2):44-52. doi: 10.1159/000131301.
Chromosomal breakage in peripheral lymphocytes, cultured fibroblasts and long-term lymphoblastoid cell lines was investigated in five hitherto undescribed patients with ataxia telangiectasia (AT). Increased chromosomal instability was observed in lymphocytes and fibroblasts, and clones possessing a Dq+ marker were observed. Breakage rates were significantly higher in the fibroblasts than in the lymphocytes of AT patients or in similar tissues from patients with Bloom syndrome or Fanconi anemia. However, chromosome breakage in lymphoblastoid lines established from these five AT patients and six others did not differ from controls. These observations suggests that selection pressures, in vivo or in vitro, or both, act differently on the expression of chromosomal instability in these various cell types.
在五例此前未被描述过的共济失调毛细血管扩张症（AT）患者中，对其外周淋巴细胞、培养的成纤维细胞和长期淋巴母细胞系中的染色体断裂情况进行了研究。在淋巴细胞和成纤维细胞中观察到染色体不稳定性增加，并且观察到了具有Dq+标记的克隆。成纤维细胞中的断裂率显著高于AT患者的淋巴细胞，或患有布卢姆综合征或范可尼贫血患者的类似组织中的断裂率。然而，从这五例AT患者和另外六例患者建立的淋巴母细胞系中的染色体断裂情况与对照组并无差异。这些观察结果表明，体内或体外的选择压力，或两者兼而有之，对这些不同细胞类型中染色体不稳定性的表达作用方式不同。
