Schmickel R D, Chu E H, Trosko J E, Chang C C
Pediatrics. 1977 Aug;60(2):135-9.
Two unrelated children, a boy 2 1/2 years old and a girl 4 years old, were affected with the cachectic dwarfism of Cockayne syndrome. Fibroblast cultures derived from these patients exhibited increased sensitivity to ultraviolet (UV) light, but not to x-irradiation, as measured by colony-forming ability. In both Cockayne fibroblast cultures, the rate of removal of thymidine dimer from the irradiated cellular DNA was normal. This demonstration of a cellular defect in Cockayne cells suggests that there may be an enzymatic defect in the repair of UV light-induced damage.
两名无亲缘关系的儿童，一名2岁半的男孩和一名4岁的女孩，患有科凯恩综合征的恶病质性侏儒症。从这些患者身上获取的成纤维细胞培养物对紫外线（UV）表现出更高的敏感性，但对X射线照射则不然，这是通过集落形成能力来衡量的。在这两种科凯恩成纤维细胞培养物中，受照射细胞DNA中胸腺嘧啶二聚体的去除速率是正常的。科凯恩细胞中这种细胞缺陷的证明表明，在紫外线诱导损伤的修复过程中可能存在酶缺陷。
