Cowell J K, Wang Y D, Head K, Conroy J, McQuaid D, Nowak N J
Department of Cancer Genetics, Roswell Park Cancer Institute, Elm and Carlton Streets, Buffalo, NY 14263, USA.
Br J Cancer. 2004 Feb 23;90(4):860-5. doi: 10.1038/sj.bjc.6601588.
Constitutional chromosome deletions and duplications frequently predispose to the development of a wide variety of cancers. We have developed a microarray of 6000 bacterial artificial chromosomes for array-based comparative genomic hybridisation, which provides an average resolution of 750 kb across the human genome. Using these arrays, subtle gains and losses of chromosome regions can be detected in constitutional cells, following a single overnight hybridisation. In this report, we demonstrate the efficiency of this procedure in identifying constitutional deletions and duplications associated with predisposition to retinoblastoma, Wilms tumour and Beckwith-Wiedemann syndrome.
染色体结构缺失和重复常常会引发多种癌症。我们开发了一种包含6000个细菌人工染色体的微阵列，用于基于阵列的比较基因组杂交，该微阵列在整个人类基因组上的平均分辨率为750 kb。使用这些微阵列，经过单次过夜杂交后，即可在体细胞中检测到染色体区域的细微增减。在本报告中，我们展示了该方法在识别与视网膜母细胞瘤、肾母细胞瘤和贝克威思-维德曼综合征易感性相关的染色体结构缺失和重复方面的有效性。
