Andrews A D, Barrett S F, Robbins J H
Lancet. 1976 Jun 19;1(7973):1318-20. doi: 10.1016/s0140-6736(76)92652-0.
The severity of neurological abnormalities in patients with xeroderma pigmentosum has been found to be related to their ability to repair ultraviolet (U.V.)-damaged D.N.A. Patients with the most severe neurological abnormalities have the least effective D.N.A. repair is shown by the decreased colony-forming ability of their U.V.-irradiated fibroblasts. These results suggest that the lack of adequate D.N.A. repair is causally related to the clinical manifestations of a human heredodegenerative nervous system disease.
人们发现,着色性干皮病患者神经异常的严重程度与其修复紫外线(U.V.)损伤的DNA的能力有关。神经异常最严重的患者,其DNA修复效果最差,这表现为其经紫外线照射的成纤维细胞的集落形成能力下降。这些结果表明,DNA修复不足与一种人类遗传性退行性神经系统疾病的临床表现存在因果关系。