Restriction endonuclease mapping of cellular DNA has been used to identify chromosomes that carry the mutant Hb Presbyterian β-globin genes in a family with individuals heterozygous for this disease. The presence of the polymorphic Hind III restriction site in the Gγ-globolin gene and its absence in the Aγ-globolin gene were shown to be in phase with the Hb Presbyterian mutation yielding a haplotype constellation that is diagnostic for any further affected offspring.
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Horst, J., Oehme, R., Kleihauer, E. et al. DNA restriction mapping identifies the chromosome carrying the mutant Hb Presbyterian β-globin gene. Hum Genet 64, 263–266 (1983). https://doi.org/10.1007/BF00279406
- Internal Medicine
- Restriction Endonuclease
- Metabolic Disease
- Restriction Site
- Restriction Mapping