Down综合征与DNA修复机制缺陷  

DOWN SYNDROME AND DEFECTIVE REPAIR OF DAMAGED DNA

作　　者：廖康煌[1] RE Tarone JH Robbins 

机构地区：[1]上海医科大学皮肤病学研究所 [2]美国NIH国立肿瘤研究所生物统计学科 [3]美国NIH国立肿瘤研究所皮肤科

出　　处：《上海医学》1988年第7期406-408,共3页Shanghai Medical Journal

摘　　要：作者注意到Down综合征(DS)患者均有Alzheimer病(AD)的神经病理学特征,且白血病的发病率显著增高:通过对DS和AD患者淋巴细胞株经X射线处理后生存能力的研究,发现两者均对X线有异常敏感(P<0.0001和0.004),对其它某些原发性神经元变性性疾病如着色性干皮病(XP)、毛细血管扩张性共济失调症和Cockayne综合征等作了比较,这些细胞均显示对DNA损伤因子异常敏感。在XP病人中这些现象可能反映着对诱发性DNA损伤的修复缺陷。因此,本病也可能是对损伤的DNA存在着修复的缺陷而导致白血病的发病率增高以及象AD那样的神经细胞的过早死亡。Our interest in Down syndrome(DS)is due to the neuropathological features of Alzheimer disease(AD)which developed in all DS patients and to the increased susceptibility to leukemia in DS.We studied the ability of the lymphoblastoid cell lines from DS and AD patients to survive after treatment with x-ray.Both DS and AD lines were significantly more sensitive to x-ray than the normal lines(p<0.0001 and p=0.004).In other primary neuronal degenerations,including xeroderma pigmentosum,ataxia telangiectasia and Cockayne syndrome,all their cultured cells were hypersensitive to DNAdamaging agents.These phenomena may reflect defective repair of induced DNA damage in DS patients,which could be the cause of their increased susceptibility to leukemia and premature death of their neurons.

关 键 词：综合征 综合病症 DNA 细胞株 神经细胞 细胞存活率 机制缺陷 原发性变性 Down 神经元 神经组织 着色性干皮病 隐性遗传病 培养细胞 白血病 血癌 毛细血管扩张性共济失调 体外实验 体外试验 损伤因子 

分 类 号：R73[医药卫生—肿瘤]