Konn Zoë J, Wright Sarah L, Barber Kerry E, Harrison Christine J
Cancer Sciences Division, University of Southampton, Southampton, UK.
Methods Mol Biol. 2009;538:29-55. doi: 10.1007/978-1-59745-418-6_3.
Cytogenetics is integral to the diagnosis of childhood leukaemia, particularly in relation to the risk stratification of patients for treatment. Fluorescence in situ hybridization (FISH) has become an important complementary technique, expanding chromosomal analysis into the molecular arena. It has greatly improved the accuracy and applicability of cytogenetics and led to the discovery of novel chromosomal changes of prognostic significance. Many probes are now commercially available, providing robust and reliable detection of chromosomal abnormalities. Since the cloning of the human genome, it is now possible to access detailed genomic information and develop FISH probes for virtually any known DNA sequence. The range of procedures necessary for the successful application of FISH in the accurate detection of significant chromosomal abnormalities in childhood acute leukaemia is described here.
细胞遗传学对于儿童白血病的诊断不可或缺,尤其在患者治疗风险分层方面。荧光原位杂交(FISH)已成为一项重要的辅助技术,将染色体分析扩展到分子领域。它极大地提高了细胞遗传学的准确性和适用性,并促使发现了具有预后意义的新型染色体变化。现在有许多探针可供商业购买,能可靠且稳定地检测染色体异常。自人类基因组克隆以来,现在有可能获取详细的基因组信息,并针对几乎任何已知的DNA序列开发FISH探针。本文描述了在儿童急性白血病中成功应用FISH准确检测重要染色体异常所需的一系列程序。