Development of automated karyotyping that allows for accurate identification of the origin of chromosome bands and subtelomeres.

我们已经开发了一种新的光谱彩色带（扫描）技术基于光谱分析的差异标记波段特异性涂漆探针。在这项研究中，我们成功地展示了一个特定染色体的多色带模式，这与相应的g带模式几乎相同。扫描分析允许在每个波段的独特光谱的基础上，染色体带起源的准确鉴定。然后，我们使用SCAN对无法通过g带甚至光谱核型（SKY）识别的染色体异常进行了完整的分析，得到了以下结果：我们将这种方法应用于来自不同正常男性供体的中期细胞，这些细胞的核型具有不同水平的条带分辨率，从每个单倍体核型250条带到550条带不等。无论染色体的长度或g带模式的质量如何，在所有样品中都观察到相同的多色带模式。SCAN能够准确识别小染色体片段的染色体带起源。SCAN分析能够识别以前g带或sky检测不到的染色体内变化。SCAN可以准确地识别复杂重排的易位断点。本研究表明，SCAN是细胞遗传学分析的有用工具，是实现全自动核型的重要一步。

We have developed a novel spectral color banding (SCAN) technique based on spectral analysis of differentially labeled band-specific painting probes. In this study, we succeeded in displaying a multicolor-banding pattern for a specific chromosome, which was almost identical to the pattern obtained with the corresponding G-banding. SCAN analysis allowed for accurate identification of chromosome-band origin on the basis of the unique spectrum of each band.We then used SCAN for a complete analysis of chromosomal abnormalities, which could not be identified by G-banding or even by spectral karyotyping (SKY) and the following results were obtained.1. We applied this method to metaphase cells from different normal male donors having karyotypes with various levels of banding resolution ranging from 250 bands per haploid karyotype to 550 bands. The same multicolor-banding pattern was observed in all samples regardless of the length of the chromosomes or the quality of the G-banding pattern.2. SCAN was capable of accurately identifying chromosome-band origin of small chromosome segments.3. SCAN analysis was able to identify intrachromosomal changes not previously detected by G-banding or SKY.4. SCAN has made it possible to accurately identify the translocation breakpoints of complex rearrangements.This study demonstrates that SCAN is a useful tool for cytogenetic analysis and an important step on the road to fully automated karyotyping.