Taylor A M, Flude E, Laher B, Stacey M, McKay E, Watt J, Green S H, Harding A E
Department of Cancer Studies, Medical School, Birmingham.
J Med Genet. 1987 Nov;24(11):669-77. doi: 10.1136/jmg.24.11.669.
Two ataxia telangiectasia patients with unusual clinical and cellular features are described. Cultured fibroblasts and PHA stimulated lymphocytes from these two patients showed a smaller increase of radiosensitivity than cells from other A-T patients, as measured by colony forming ability or induced chromosome damage respectively, after exposure to ionising radiation. The response of DNA synthesis to irradiation of these cells was, however, the same as for other A-T patients. Cells from a third patient with some clinical features of A-T but with a very protracted course also showed low levels of radiation induced chromosome damage, but colony forming ability and the response of DNA synthesis after irradiation were no different from cells of normal subjects. There was, however, an increased level of translocations and unstable chromosomal rearrangements in this patient's lymphocytes.
本文描述了两名患有共济失调毛细血管扩张症（ataxia telangiectasia，A-T）且具有不寻常临床和细胞特征的患者。通过集落形成能力或诱导染色体损伤分别测量，这两名患者的培养成纤维细胞和PHA刺激的淋巴细胞在暴露于电离辐射后，其放射敏感性的增加幅度小于其他A-T患者的细胞。然而，这些细胞的DNA合成对辐射的反应与其他A-T患者相同。第三名具有一些A-T临床特征但病程非常漫长的患者的细胞，其辐射诱导的染色体损伤水平也较低，但集落形成能力以及辐射后DNA合成的反应与正常受试者的细胞没有差异。然而，该患者淋巴细胞中的易位和不稳定染色体重排水平有所增加。
