RETARDED RATE OF DNA CHAIN GROWTH IN BLOOMS SYNDROME
RETARDED RATE OF DNA CHAIN GROWTH IN BLOOMS SYNDROME
复制标题
DOI：
10.1073/pnas.72.2.758
复制
发表时间：
1975-01-01
影响因子：
11.1
通讯作者：
GERMAN, J
中科院分区：
文献类型：
--
作者：
HAND, R;GERMAN, J
细胞遗传学观察发现，同源染色单体互换发生在布卢姆综合征比正常更频繁，促使调查DNA复制在这种罕见的遗传疾病。使用DNA纤维放射自显影术，对正在进行的DNA复制的一个组成部分DNA链生长的速率进行了估计。在组织培养中发现Bloom综合征真皮成纤维细胞的速率明显低于正常对照细胞。(The在范可尼贫血细胞中发现率是正常的。对链生长迟缓的解释可能是，直接与保守DNA复制有关的酶是有缺陷的，或者是本身不直接与复制有关的有缺陷的酶导致细胞代谢紊乱，进而影响复制。
The cytogenetic observation that homologous chromatid interchange occurs in Bloom's syndrome more often than normal prompted an investigation of DNA replication in that rare genetic disorder. Using DNA fiber autoradiography, an estimation was made of the rate of one component of ongoing DNA replication, DNA chain growth. The rate in Bloom's syndrome dermal fibroblasts in tissue culture was found to be significantly slower than that in normal control cells. (The rate was found to be normal in Fanconi's anemia cells.) The explanation for the retarded chain growth may be either that an enzyme concerned directly with semiconservative DNA replication is defective or that a defective enzyme not itself concerned directly with replication results in disturbed cellular metabolism which in turn affects replication.