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

ABSTRACT

Restriction endonuclease mapping of cellular DNA has been used to identify chromosomes that carry the mutant Hb Presbyterian beta-globin genes in a family with individuals heterozygous for this disease. The presence of the polymorphic Hind III restriction site in the G gamma-globin gene and its absence in the A gamma-globin gene were shown to be in phase with the Hb Presbyterian mutation yielding a haplotype constellation that is diagnostic for any further affected offspring.