Knijnenburg Jeroen, Szuhai Károly, Giltay Jacques, Molenaar Lia, Sloos Willem, Poot Martin, Tanke Hans J, Rosenberg Carla
Laboratory for Cytochemistry and Cytometry, Department of Molecular Cell Biology, Leiden University Medical Center (LUMC), Leiden, The Netherlands.
Am J Med Genet A. 2005 Jan 1;132A(1):36-40. doi: 10.1002/ajmg.a.30378.
Array-based comparative genomic hybridization allows high-resolution screening of copy number abnormalities in the genome, and becomes an increasingly important tool to detect deletions and duplications in tumor and post-natal cytogenetics. Here we illustrate that genomic arrays can also provide novel clues regarding the structural basis of chromosome rearrangement, including instability and mechanisms of formation of ring chromosomes. We also showed that array results might impact the recurrence risks for relatives of affected individuals. Our data indicate that chromosome rearrangements frequently involve more breaks than current cytogenetic models assume.
基于阵列的比较基因组杂交技术可对基因组中的拷贝数异常进行高分辨率筛选,成为肿瘤及产后细胞遗传学中检测缺失和重复的一项日益重要的工具。在此我们证明,基因组阵列还可就染色体重排的结构基础提供新线索,包括染色体环的不稳定性及形成机制。我们还表明,阵列结果可能会影响受影响个体亲属的复发风险。我们的数据表明,染色体重排涉及的断裂通常比当前细胞遗传学模型所设想的更多。