García Heras J, Coco R
Mutat Res. 1987 Jun;178(2):225-33. doi: 10.1016/0027-5107(87)90273-9.
We have examined the spontaneous and X-radiation-induced chromosomal damage in normal humans and in patients with retinoblastoma using the BudR-Giemsa technique in lymphocytes cultured for 48 h. 9 sporadic unilateral non-hereditary cases, 11 hereditary cases (8 bilateral sporadic and 3 unilateral hereditary cases) and 20 healthy individuals were studied simultaneously. No difference in the spontaneous frequency of chromatid and chromosome aberrations was observed between patients and controls. After treatment with 150 rad the frequency of chromosome exchange aberrations was higher in unilateral hereditary cases than the controls (42.0% +/- 5.3 and 22.3% +/- 2.6 respectively; p = 0.05). In bilateral sporadic retinoblastoma 2 different groups were observed. A hypersensitive group showed a significant increment in radiation-induced chromosomal exchange aberrations over the control group (46.2% +/- 5.4 and 24.2% +/- 2.1 respectively; p = 0.01). The other group had a chromosomal exchange frequency similar to normal individuals (26.5% +/- 2.0 and 24.2% +/- 0.4 respectively; p = 0.10). Sporadic unilateral non-hereditary retinoblastoma had an exchange chromosomal aberration frequency similar to control individuals (26.1% +/- 2.8 and 24.6% +/- 2.7 respectively; p greater than 0.10). These results suggest that: There is no relationship between spontaneous chromosome fragility and retinoblastoma. Sporadic unilateral non-hereditary retinoblastoma has normal chromosome sensitivity to X-irradiation. Some hereditary cases of retinoblastoma are sensitive to X-rays while others behave like normals. A mutation or a submicroscopic deletion at a DNA repair locus which is independent of the retinoblastoma gene may cause this radiosensitivity.
我们使用BudR-吉姆萨技术，对培养48小时的淋巴细胞进行研究，检测了正常人和视网膜母细胞瘤患者的自发及X射线诱导的染色体损伤。同时研究了9例散发性单侧非遗传性病例、11例遗传性病例（8例双侧散发性和3例单侧遗传性病例）以及20名健康个体。患者与对照组之间在染色单体和染色体畸变的自发频率上未观察到差异。用150拉德进行照射后，单侧遗传性病例中染色体交换畸变的频率高于对照组（分别为42.0%±5.3和22.3%±2.6；p = 0.05）。在双侧散发性视网膜母细胞瘤中观察到2个不同的组。一个超敏组显示，辐射诱导的染色体交换畸变比对照组有显著增加（分别为46.2%±5.4和24.2%±2.1；p = 0.01）。另一组的染色体交换频率与正常个体相似（分别为26.5%±2.0和24.2%±0.4；p = 0.10）。散发性单侧非遗传性视网膜母细胞瘤的染色体交换畸变频率与对照个体相似（分别为26.1%±2.8和24.6%±2.7；p＞0.10）。这些结果表明：自发染色体脆性与视网膜母细胞瘤之间没有关系。散发性单侧非遗传性视网膜母细胞瘤对X射线具有正常的染色体敏感性。一些遗传性视网膜母细胞瘤病例对X射线敏感，而其他病例表现正常。DNA修复位点上与视网膜母细胞瘤基因无关的突变或亚显微缺失可能导致这种放射敏感性。
