Dallapiccola B, Porfirio B, Mokini V, Alimena G, Isacchi G, Gandini E
Hum Genet. 1985;69(1):62-5. doi: 10.1007/BF00295530.
Peripheral blood lymphocytes from eight Fanconi anemia (FA) patients, 14 FA heterozygotes, and nine normal subjects have been tested for their susceptibility to chromosomal breakage induction by diepoxybutane (DEB) and by two peroxides. In addition, the effect of five antioxidants was investigated in standard cultures and in cultures stressed either with DEB or with butylhydroperoxide (BHP) or with hydrogen peroxide (H2O2). DEB, BHP, and H2O2 dramatically increased the chromosomal breakage levels in homozygous and heterozygous FA cells. A partial correction of chromosomal instability was obtained by treating the patients' lymphocytes with antioxidants. A "protective" effect was also noted in the DEB or peroxide-stressed lymphocytes of patients and heterozygotes, grown in the presence of antioxidants.
对8名范可尼贫血（FA）患者、14名FA杂合子以及9名正常受试者的外周血淋巴细胞进行了检测，以评估其对二环氧丁烷（DEB）和两种过氧化物诱导染色体断裂的敏感性。此外，还研究了5种抗氧化剂在标准培养条件下以及在受到DEB、叔丁基过氧化氢（BHP）或过氧化氢（H2O2）胁迫的培养条件下的作用。DEB、BHP和H2O2显著提高了纯合子和杂合子FA细胞中的染色体断裂水平。通过用抗氧化剂处理患者的淋巴细胞，部分纠正了染色体不稳定性。在抗氧化剂存在的情况下培养的患者和杂合子的DEB或过氧化物胁迫淋巴细胞中也观察到了“保护”作用。
