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The value of fluorescence microscopy in studying abnormalities of G group chromosomes

Caspersson et al demonstrated that chromosomes stained with quinacrine mustard and examined under ultraviolet light had distinctive patterns of fluroescence. This technique has been used to study the G group chromosomes from 25 individuals.The pattern of fluorescence of the G group chromosomes from 10 normal individuals was determined. The very bright fluoresence on the distal end of long arm of the Y chromosome, as described by others, was apparent. The 4 autosomes could be separated into 2 distinct pairs. One pair had a broad band of fluorescence encompassing ⅔ of the proximal long arm. The second pair had a small area of increased fluorescence in the region of the centromere and short arm. The trisomic chromosome in 9 patients with Down's syndrome was the one with a broad band of fluorescence on the proximal ⅔ of the long arm. Chromosome #21 is smaller than chromosome #22. In a family with a G group marker, the fluorescence technique made identification of the marker chromosome, as #21, possible.Chromosomes from 2 phenotypic males with XX sex chromosomes were examined. the brightly fluorescent region of the long arm of a Y chromosome was not found translocated on any part of the genome. These data plus morphologic considerations indicate that if any Y material were present, it could only be short arm DNA. This is further evidence for male determinants being located on the short arm of the Y chromosome.Quinacrine mustard staining and UV microscopy is a new technique that enables us to identify specific chromosomes and regions within chromosomes.