Joenje H, Arwert F, Eriksson A W, de Koning H, Oostra A B
Nature. 1981 Mar 12;290(5802):142-3. doi: 10.1038/290142a0.
Fanconi's anaemia (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. We report here that the frequency of chromosomal aberrations in FA lymphocyte cultures is positively related to oxygen tension and suggest that the site primarily affected by the FA mutation is in the complex system of defence (that is, protection and repair) against the genetic toxicity of oxygen.
范科尼贫血（FA）是一种常染色体隐性疾病，其特征是“自发”染色体畸变的频率很高，患癌风险增加。如果这种疾病中显微镜下可见的染色体畸变似乎合理地源于通常可修复的DNA或染色质损伤，那么就会出现修复过程中的哪个步骤存在缺陷以及该缺陷是内在的还是次要因素导致的问题。我们在此报告，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，并表明主要受FA突变影响的部位是针对氧的遗传毒性的复杂防御系统（即保护和修复）。
