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

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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.