title: Haemoglobin Freiburg: direct detection by synthetic oligonucleotide probes.
abstract: The molecular defect leading to Haemoglobin (Hb) Freiburg has been analysed using synthetic oligonucleotides. Oligonucleotide probes 19 residues and 16 residues long, corresponding to the normal and mutant beta-globin gene sequences, respectively, were used to develop a direct assay for the beta F-globin gene, which codes for an unstable haemoglobin. Under the conditions described here the use of the respective synthetic oligonucleotides should aid in the determination of all Hb Freiburg genotypes in families at risk with a high level of confidence.
authors.affiliation: Institut für Humangenetik der Universität, Münster, Federal Republic of Germany.
authors.forename: J
authors.initials: J
authors.lastname: Horst
authors.forename: R
authors.initials: R
authors.lastname: Oehme
authors.forename: J T
authors.initials: JT
authors.lastname: Epplen
authors.forename: E
authors.initials: E
authors.lastname: Kohne
mesh_terms: D004247:DNA / Q000235:genetics*; D005260:Female; D005838:Genotype; D005914:Globins / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D008297:Male; D009693:Nucleic Acid Hybridization; D009841:Oligonucleotides; D010375:Pedigree; D012689:Sequence Homology, Nucleic Acid
chemical_list: D006455:Hemoglobins, Abnormal; D009841:Oligonucleotides; C047261:hemoglobin Freiburg; D005914:Globins; D004247:DNA