The 24 fluorescence patterns of the human metaphase chromosomes - distinguishing characters and variability

TLDR

Fluorescent DNA‑binding compounds such as quinacrine mustard produce characteristic banding patterns that enable identification of all 24 human metaphase chromosomes and detection of aberrations. The authors used quinacrine mustard to generate clear, stable fluorescence patterns, described each chromosome’s typical pattern, and assessed reproducibility and variability by photometric measurement of about 5,000 chromosomes from 14 healthy individuals. The study found that, aside from a few strongly fluorescent regions that vary individually, the overall fluorescence patterns are highly stable and reproducible.

Abstract

Certain fluorescent DNA-binding compounds, among them quinacrine mustard and quinacrine, give characteristic banding patterns in human metaphase chromosomes; these patterns can be used to identify all the 24 chromosome types as well as chromosome aberrations. The patterns given by quinacrine mustard are especially clear and stable and are suitable for chromosome identification either visually—preferably after contrast enhancement by photography—or by photometric methods. The typical fluorescence pattern of each chromosome type is described. The reproducibility and variability of the patterns have been analysed by photometric measurements of the patterns in a material of about 5000 chromosomes from 14 healthy subjects. Apart from certain minor but well defined chromosome regions with especially strong fluorescence, which are subject to certain individual variations, the fluorescence patterns were shown to be quite stable and reproducible.