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DNA restriction mapping identifies the chromosome carrying the mutant Hb Presbyterian β-globin gene

Summary

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

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  • DOI: https://doi.org/10.1007/BF00279406

Keywords

  • Internal Medicine
  • Restriction Endonuclease
  • Metabolic Disease
  • Restriction Site
  • Restriction Mapping