Hemoglobin Koln: direct analysis of the gene mutation by synthetic DNA probes

The molecular defect leading to Hb Koln has been analyzed by synthetic oligonucleotides. Thus, DNA of 19 nucleotides, in length corresponding to the normal and mutant beta-globin gene sequences, were used to develop a direct assay for the beta k-gene that codes for this most common form of the unstable hemoglobins. The use of synthetic oligonucleotides established that the Hb Koln mutation is due to a G-to- A transition. The conditions described here should result in the determination of all Hb Koln genotypes with a high level of confidence.