Andrews A D, Barrett S F, Yoder F W, Robbins J H
J Invest Dermatol. 1978 May;70(5):237-9. doi: 10.1111/1523-1747.ep12541383.
Cockayne's syndrome is a form of cachectic dwarfism characterized by acute sun sensitivity and numerous other abnormalities of many organ systems. We studied fibroblasts from 9 Cockayne's syndrome patients to determine if their fibroblasts had abnormal post-ultraviolet light colony-forming ability or abnormal ultraviolet light-induced unscheduled DNA synthesis. The fibroblast strains from all the patients had markedly decreased post-ultraviolet light colony-forming ability in comparison with fibroblasts from control donors. Since this increased ultraviolet light sensitivity is propagable in vitro, it may be a manifestation of, or be closely associated with, the inherited genetic defect of this autosomal recessive disease. However, the patients' fibroblasts had normal rates of ultraviolet light-induced unscheduled DNA synthesis. Thus, unlike the UV sensitivity of DNA excision repair-deficient xeroderma pigmentosum strains, the UV sensitivity of Cockayne's syndrome strains is not related to abnormal DNA excision repair, at least to the extent that this repair process is reflected by rates of ultraviolet light-induced unscheduled DNA synthesis.
科凯恩综合征是一种恶病质侏儒症，其特征为对阳光极度敏感以及许多其他器官系统的异常。我们研究了9名科凯恩综合征患者的成纤维细胞，以确定其成纤维细胞在紫外线照射后的集落形成能力是否异常，或紫外线诱导的非预定DNA合成是否异常。与对照供体的成纤维细胞相比，所有患者的成纤维细胞株在紫外线照射后的集落形成能力均显著降低。由于这种对紫外线敏感性的增加在体外具有可遗传性，它可能是这种常染色体隐性疾病遗传基因缺陷的一种表现，或者与之密切相关。然而，患者的成纤维细胞在紫外线诱导的非预定DNA合成方面速率正常。因此，与DNA切除修复缺陷的着色性干皮病株对紫外线的敏感性不同，科凯恩综合征株对紫外线的敏感性与异常的DNA切除修复无关，至少在紫外线诱导的非预定DNA合成速率所反映的这种修复过程的程度上是如此。
