Genetic analysis by chromosome sorting and painting: phylogenetic and diagnostic applications

Abstract

Chromosome sorting from fluid suspensions of metaphase chromosomes using a fluorescence-activated cell sorter has been used for a number of years to produce chromosome-specific genomic libraries and other reagents for chromosome mapping. Improved techniques for fluorescence in situ hybridisation and the amplification and labelling of sorted chromosomes using degenerate oligonucleotide-primed PCR have led to the widespread use of chromosome painting both for the resolution of complex chromosome aberrations and for the study of karyotype evolution by cross-species reciprocal chromosome painting. The chromosomes of a large number of different species have been sorted and used to make chromosome-specific paints and already new data challenging results of earlier phylogenetic studies have been obtained. Sorted chromosomes provide the resource for multicolour chromosome analysis of all chromosomes simultaneously. Such reagents are now available for all human and mouse chromosomes and are proving particularly useful in the analysis of cancer chromosomes.