ReviewReview: Diseases with DNA Damage-Processing Defects
ReviewReview: Diseases with DNA Damage-Processing Defects
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回顾回顾：具有 DNA 损伤处理缺陷的疾病
DOI：
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发表时间：
1988
期刊：
影响因子：
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通讯作者：
R. Moses
中科院分区：
文献类型：
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作者：
T. Timme;R. Moses
色素性干皮病、Cockayne综合征、共济失调毛细血管扩张症、Fanconi贫血和Bloom综合征是常染色体隐性遗传病，具有处理DNA损伤的能力缺陷。虽然这些疾病很罕见，但它们在实践中偶尔会出现，并提供了对人类DNA修复和复制机制的洞察。作者将回顾每种疾病的临床和细胞学表现，通过互补分析推断的遗传异质性，以及每种疾病的鉴别特征。最后，作者将对每种疾病的研究现状和未来研究的可能方向进行讨论。
Xeroderma pigmentosum, Cockayne’s syndrome, ataxia telangiectasia, Fanconi anemia, and Bloom’s syndrome are autosomal recessive diseases with cellular defects in the ability to process DNA damage. Although these diseases are rare, they are seen occasionally in practice and provide insight into the mechanisms of DNA repair and replication in humans. The authors will review the clinical and cytological presentation of each disease, the genetic heterogeneity, as inferred by complementation analysis, and the differentiating characteristics of each. The authors will conclude with a discussion of the state of current research on each disease and possible directions for future research.