title: Hemoglobin Köln: direct analysis of the gene mutation by synthetic DNA probes.
abstract: The molecular defect leading to Hb Köln 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 Köln mutation is due to a G-to-A transition. The conditions described here should result in the determination of all Hb Köln genotypes with a high level of confidence.
mesh_terms: D000743:Anemia, Hemolytic / Q000175:diagnosis / Q000235:genetics*; D001483:Base Sequence; D006453:Hemoglobinopathies / Q000175:diagnosis / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D009154:Mutation; D009838:Oligodeoxyribonucleotides / Q000138:chemical synthesis; D011296:Prenatal Diagnosis
chemical_list: D006455:Hemoglobins, Abnormal; D009838:Oligodeoxyribonucleotides; C034409:hemoglobin Koln