Timme T L, Moses R E
Department of Cell Biology, Baylor College of Medicine, Houston, Texas 77030.
Am J Med Sci. 1988 Jan;295(1):40-8. doi: 10.1097/00000441-198801000-00009.
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.
着色性干皮病、科凯恩综合征、共济失调毛细血管扩张症、范科尼贫血和布卢姆综合征都是常染色体隐性疾病，在处理DNA损伤的能力方面存在细胞缺陷。尽管这些疾病很罕见，但在实际中偶尔会见到，它们有助于深入了解人类DNA修复和复制的机制。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。作者将以对每种疾病当前研究状况的讨论以及未来研究的可能方向作为总结。
