Development of new spectral karyotyping (SKY) techniques in cytogenetic analysis

1.双重核型经数字倒置和对比增强后的DAPI带型图像与G显带的带型基本一致。这种方法产生了足够的条带分辨率，相当于每个单倍体集合大约400条带。采用Sky和DAPI显带相结合的方法确定染色体核型(双重核型)，同时显示染色体的DAPI带型图像和分类彩色图像。核型有助于利用光谱分类的彩色图像确定重排的染色体材料的来源。此外，可以根据G带样图像上的染色体带精确确定断裂点。彩色显带我们开发了一种新的染色体显带技术，称为光谱彩色显带(SCAN)。利用这项技术，我们显示了一种几乎完全与相应的G-显带模式相关的多色显带模式。扫描分析可以根据染色体的光谱颜色和染色体内变化的检测来准确识别染色体带的来源。此外，扫描分析可以确定复杂重排的精确断裂点，并确定小染色体片段的染色体带起源。我们将SCAN与SKY相结合的初步应用表明，这项新技术能够准确地识别人类24条染色体中每一条的染色体带起源，并可能识别以前G显带或SKY未检测到的染色体内变化。SCAN技术可能成为细胞遗传学分析的强大工具，并在实现全自动核型分析的道路上迈出重要的一步。

1. dual karyotypingThe DAPI-band image, which was digitally inverted and contrast-enhanced, was almost identical to the pattern obtained with G-banding. This method resulted in adequate band resolution that corresponded to approximately 400 bands per haploid set. The karyotypes (dual karyotypes) were ascertained by combining SKY and the DAPI-banding, in which both the DAPI-band image and the classification color image of the chromosomes are simultaneously displayed in parallel. The karyotype helped determine the origin of the rearranged chromosomal materials by using the spectrally classified color images. In addition, the breakpoints could be precisely determined with respect to chromosome bands on the G-band-like images.2. color-bandingWe developed a novel chromosome banding technique named spectral color banding (SCAN). With this technique we displayed a multicolor banding pattern that almost entirely correlated with the corresponding G-banding pattern. SCAN analysis allowed for accurate identification of chromosome-band origin on the basis of its spectral color and detection of intrachromosomal changes. Furthermore, SCAN analysis could determine the precise breakpoints of complex rearrangements and identify the chromosome-band origin of small chromosome segments. Our preliminary use of SCAN in combination with SKY suggests that this new technique is capable of accurately identifying chromosome-band origin for each of the 24 human chromosomes, and that it may be able to identify intrachromosomal changes not previously detected by G-banding or SKY.SCAN technique could become a powerful tool for cytogenetic analysis and an important step on the road to fully automated karyotyping.