Schröck E, Veldman T, Padilla-Nash H, Ning Y, Spurbeck J, Jalal S, Shaffer L G, Papenhausen P, Kozma C, Phelan M C, Kjeldsen E, Schonberg S A, O'Brien P, Biesecker L, du Manoir S, Ried T
Genome Technology Branch, National Institutes of Health, Bethesda, Maryland 20892-4470, USA.
Hum Genet. 1997 Dec;101(3):255-62. doi: 10.1007/s004390050626.
Karyotype analysis by chromosome banding is the standard method for identifying numerical and structural chromosomal aberrations in pre- and postnatal cytogenetics laboratories. However, the chromosomal origins of markers, subtle translocations, or complex chromosomal rearrangements are often difficult to identify with certainty. We have developed a novel karyotyping technique, termed spectral karyotyping (SKY), which is based on the simultaneous hybridization of 24 chromosome-specific painting probes labeled with different fluorochromes or fluorochrome combinations. The measurement of defined emission spectra by means of interferometer-based spectral imaging allows for the definitive discernment of all human chromosomes in different colors. Here, we report the comprehensive karyotype analysis of 16 samples from different cytogenetic laboratories by merging conventional cytogenetic methodology and spectral karyotyping. This approach could become a powerful tool for the cytogeneticists, because it results in a considerable improvement of karyotype analysis by identifying chromosomal aberrations not previously detected by G-banding alone. Advantages, limitations, and future directions of spectral karyotyping are discussed.
通过染色体显带进行核型分析是产前和产后细胞遗传学实验室识别染色体数目和结构异常的标准方法。然而，标记物、细微易位或复杂染色体重排的染色体起源往往难以确切识别。我们开发了一种新的核型分析技术，称为光谱核型分析（SKY），它基于用不同荧光染料或荧光染料组合标记的24种染色体特异性涂染探针的同时杂交。通过基于干涉仪的光谱成像测量特定的发射光谱，能够以不同颜色明确区分所有人类染色体。在此，我们通过将传统细胞遗传学方法与光谱核型分析相结合，报告了来自不同细胞遗传学实验室的16个样本的全面核型分析。这种方法可能成为细胞遗传学家的有力工具，因为它通过识别仅靠G显带以前未检测到的染色体异常，极大地改进了核型分析。本文还讨论了光谱核型分析的优点、局限性和未来发展方向。
