Genetically determined chromosome instability syndromes.
Genetically determined chromosome instability syndromes.
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遗传决定的染色体不稳定综合征。
DOI：
10.1159/000131736
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发表时间：
1982
期刊：
影响因子：
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通讯作者：
T. Schroeder
中科院分区：
文献类型：
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作者：
T. Schroeder
自发性增加的染色体不稳定性在三种常染色体隐性遗传疾病中有很好的记录，范可尼贫血（FA），布卢姆综合征（BS）和共济失调毛细血管扩张症（AT）。据报道，其他情况也与染色体断裂有关。有些仍然是单一的观察结果：在沃纳综合征中，只有成纤维细胞受到影响，系统性硬化症可能不是遗传性疾病。FA，BS和AT的各个方面进行了讨论，这些方面是自最近的评论发表以来出现的。FA的鉴别诊断比过去更加重要。FA的异质性要求定义FA和FA变体的名称。FA和AT中癌症频率和类型的分析缺乏重要线索。这将激励我们所有人相互交换数据，不仅对患者和随访进行登记，而且对特征细胞株进行登记。从细胞和细胞遗传学研究的结果的概要表明，FA，BS和AT共享的染色体不稳定的一般现象的细节的相似性和差异。DNA水平的生化研究结果以及细胞遗传学发现表明，由于不同的基因，DNA代谢或DNA修复机制存在不同但仍不明确的故障。简要介绍了一种分析FA中DNA修复损伤的新方法。DNA相关酶在细胞质中产生，并且必须被运输到细胞核。拓扑异构酶活性的亚细胞分布被发现是不寻常的三个胎盘FA患者。其他DNA酶分布正常。因此，酶穿过核膜的特定运动机制似乎是有缺陷的。
Spontaneously increased chromosomal instability is well documented in the three autosomal recessive diseases, Fanconi's anemia (FA), Bloom's syndrome (BS), and ataxia telangiectasia (AT). Other conditions have been reported to be associated with chromosomal breakage. Some are still single observations: in Werner's syndrome only fibroblasts are affected, and systemic sclerosis may not be an inherited disease. Various aspects of FA, BS, and AT are discussed which have emerged since recent reviews have been published. The differential diagnosis in FA has become more important than it was in the past. Proven heterogeneity in FA demands definition of what to name FA and FA variants. The analysis of cancer frequencies and types in FA and AT lacks important clues. This should stimulate all of us to mutual exchange of data and creation of registries not only of patients and follow-ups, but also of characterized cell strains. A synopsis of results from cell and cytogenetic studies demonstrates similarities and differences in detail of the general phenomenon of chromosomal instability which FA, BS, and AT share. Results from biochemical studies at the DNA level together with cytogenetic findings indicate different but still undefined failures in DNA metabolism or DNA repair mechanisms due to the different genes. A new approach to analyzing the impairment of DNA repair in FA is briefly described. DNA related enzymes are produced in the cytoplasm and have to be transported to the nucleus. The subcellular distribution of topoisomerase activity was found to be unusual in three placentas of FA patients. Other DNA enzymes were distributed normally. Thus, a specific mechanism for movement of the enzyme through the nuclear membrane seems to be defective.