Kearney L
MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, OX3 9DS, UK.
Best Pract Res Clin Haematol. 2001 Sep;14(3):645-69. doi: 10.1053/beha.2001.0159.
Refinements in cytogenetic techniques over the past 30 years have allowed the increasingly sensitive detection of chromosome abnormalities in haematological malignancies. In particular, the advent of fluorescence in situ hybridization techniques has provided significant advances in both diagnosis and research of leukaemias. The application of new multicolour karyotyping techniques has allowed the complete dissection of complex chromosome rearrangements and provides the prospect of identifying new recurrent chromosome rearrangements. Both comparative genomic hybridization and interphase fluorescence in situ hybridization avoid the use of metaphase chromosomes altogether and have allowed the genetic analysis of previously intractable targets. Recent developments in comparative genomic hybridization to DNA microarrays provide the promise of high resolution and automated screening for chromosomal imbalances. Rather than replacing conventional cytogenetics, however, these techniques have extended the range of cytogenetic analyses when applied in a complementary fashion.
在过去30年里，细胞遗传学技术的改进使得在血液系统恶性肿瘤中能越来越灵敏地检测出染色体异常。特别是，荧光原位杂交技术的出现为白血病的诊断和研究都带来了重大进展。新的多色核型分析技术的应用使得复杂染色体重排得以完全剖析，并为识别新的复发性染色体重排提供了可能。比较基因组杂交和间期荧光原位杂交都完全避免了使用中期染色体，并使得对以前难以处理的靶点进行遗传分析成为可能。与DNA微阵列的比较基因组杂交的最新进展为染色体失衡的高分辨率和自动化筛查带来了希望。然而，这些技术并非取代传统细胞遗传学，而是以互补的方式应用时扩展了细胞遗传学分析的范围。
