OXYGEN-DEPENDENCE OF CHROMOSOMAL-ABERRATIONS IN FANCONIS ANEMIA
OXYGEN-DEPENDENCE OF CHROMOSOMAL-ABERRATIONS IN FANCONIS ANEMIA
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DOI：
10.1038/290142a0
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发表时间：
1981-01-01
期刊：
影响因子：
64.8
通讯作者：
OOSTRA, AB
中科院分区：
文献类型：
--
作者：
JOENJE, H;ARWERT, F;OOSTRA, AB
范科尼贫血 (FA) 是一种常染色体隐性遗传疾病，其特征是自发性染色体畸变频率高和患癌症的风险增加。如果这种疾病中的显微镜下可见的染色体畸变是由通常可修复的 DNA 或染色质损伤造成的，这似乎是合理的，那么就会出现修复过程中哪一步（或多步）存在缺陷以及缺陷是内在的还是次要因素的结果的问题。 FA淋巴细胞培养物中染色体畸变的频率与氧张力呈正相关。主要受 FA 突变影响的位点可能位于针对氧遗传毒性的复杂防御系统（即保护和修复）中。
Fanconi''s anemia (FA) is an autosomal recessive disorder characterized by a high frequency of spontaneous chromosomal aberrations and an increased risk of cancer. If, as seems plausible, the microscopically visible chromosomal aberrations in this disorder result from DNA or chromatin damage that would normally be repairable, the questions arise as to which step (or steps) in the repair process is deficient and whether the deficiency is intrinsic or the result of secondary factors. The frequency of chromosomal aberrations in FA lymphocyte cultures is positively related to oxygen tension. The site primarily affected by the FA mutation is probably in the complex system of defense (i.e., protection and repair) against the genetic toxicity of oxygen.