Detection of sickle cell anaemia mutation by colour DNA amplification.

A fluorescence assay to detect the mutation in sickle cell anaemia has been developed. Oligonucleotides homologous to the normal or the mutant DNA sequence are labelled with fluorescein and rhodamine, respectively, and used to prime the polymerase chain reaction. Amplified DNA products with the normal sequence fluoresce green, whereas those with the mutant sequence fluoresce red; heterozygous (AS) DNA fluoresces yellow. The results can be read by eye and the procedure could be automated.