Summary
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 β-globin gene sequences, respectively, were used to develop a direct assay for the βF-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.
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Dedicated to Professor Dr. E. Kleihauer on the occasion of his 60th birthday
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Horst, J., Oehme, R., Epplen, J.T. et al. Haemoglobin freiburg: direct detection by synthetic oligonucleotide probes. Hum Genet 79, 172–174 (1988). https://doi.org/10.1007/BF00280559
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DOI: https://doi.org/10.1007/BF00280559