CROSS-SPECIES COLOR SEGMENTING - A NOVEL TOOL IN HUMAN KARYOTYPE ANALYSIS

We used fluorescence in situ hybridization (FISH) with DNA probes deri ved from bivariate fluorescence activated flow sorting of primate chro mosomes. In cases where human and primate karyotypes differ by chromos ome rearrangements, reverse painting of primate probes resulted in a s ubregional delineation of the human homologous chromosomes. Probes wer e used from two gibbon species (Hylobates concolor and H. syndactylus) which both showed highly rearranged karyotypes, Hybridization of huma n chromosomes with painting probes derived from both gibbons showed th at, with the exception of human chromosomes 15, 18, 21, 22 and the sex chromosomes, each chromosome was differentiated in at least two and u p to six segments. These probes have been used in the analysis of vari ous cases of constitutional chromosomal rearrangements in human pathol ogy including complex intrachromosomal rearrangements. They were also used in a multi colour format (colour segmenting) to differentiate the entire human karyotype into 81 homologous coloured segments with prob es derived ham H. concolor, and 74 segments with probes derived ham H, syndactylus. The addition of colours not only simplifies chromosome i dentification compared to the analysis of classical banding based on g rey values, but colour segmenting also provides simple coloured landma rks far further fine analysis by classical banding. (C) 1998 Wiley-Lis s,Inc.