Abeysinghe Shaun S, Stenson Peter D, Krawczak Michael, Cooper David N
Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, United Kingdom.
Hum Mutat. 2004 Mar;23(3):219-21. doi: 10.1002/humu.20006.
Translocations and gross gene deletions are an important cause of both cancer and inherited disease. Such DNA rearrangements are nonrandomly distributed in the human genome as a consequence of selection for growth advantage and/or the inherent potential of some DNA sequences to be particularly susceptible to breakage and recombination. The Gross Rearrangement Breakpoint Database (GRaBD; http://www.uwcm.ac.uk/uwcm/mg/grabd/) was established primarily for the analysis of the sequence context of translocation and deletion breakpoints in a search for characteristics that might have rendered these sequences prone to rearrangement. GRaBD, which contains 397 germline and somatic DNA breakpoint junction sequences derived from 219 different rearrangements underlying human inherited disease and cancer, is the only comprehensive collection of gross gene rearrangement breakpoint junctions currently available.
易位和大片段基因缺失是癌症和遗传性疾病的重要病因。由于对生长优势的选择和/或某些DNA序列特别易发生断裂和重组的内在潜力，此类DNA重排在人类基因组中呈非随机分布。大片段重排断点数据库（GRaBD；http://www.uwcm.ac.uk/uwcm/mg/grabd/）主要用于分析易位和缺失断点的序列背景，以寻找可能使这些序列易于重排的特征。GRaBD包含397个种系和体细胞DNA断点连接序列，这些序列来自219种导致人类遗传性疾病和癌症的不同重排，是目前唯一全面的大片段基因重排断点连接序列集合。
