Taylor A M, McConville C M, Byrd P J
CRC Department of Cancer Studies, Medical School, University of Birmingham, UK.
Br Med Bull. 1994 Jul;50(3):708-17. doi: 10.1093/oxfordjournals.bmb.a072919.
Defects in cloned DNA repair genes are now associated with particular human disorders in which an important feature is a predisposition to cancer. Recently some repair genes have been implicated in other aspects of DNA metabolism such as transcription initiation. In addition mutations in a single gene can give rise to phenotypes recognised clinically as different disorders. These newly appreciated complexities, amongst others, will eventually help us to understand the development of the complete clinical phenotype in a range of 'DNA processing disorders'.
克隆的DNA修复基因缺陷现在与特定的人类疾病相关,这些疾病的一个重要特征是易患癌症。最近,一些修复基因已被证明与DNA代谢的其他方面有关,如转录起始。此外,单个基因的突变可导致临床上被认为是不同疾病的表型。这些新认识到的复杂性,以及其他因素,最终将帮助我们理解一系列“DNA加工障碍”中完整临床表型的发展。