Abstract
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 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 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.
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Weiss, L., Dully, M. The value of fluorescence microscopy in studying abnormalities of G group chromosomes. Pediatr Res 5, 424 (1971). https://doi.org/10.1203/00006450-197108000-00223
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DOI: https://doi.org/10.1203/00006450-197108000-00223