title: 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.
mesh_terms: D002874:Chromosome Mapping; D004247:DNA / Q000235:genetics*; D004262:DNA Restriction Enzymes; D005260:Female; D005809:Genes, Regulator; D005914:Globins / Q000235:genetics*; D006453:Hemoglobinopathies / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree
chemical_list: D006455:Hemoglobins, Abnormal; C017361:hemoglobin Presbyterian; D005914:Globins; D004247:DNA; D004262:DNA Restriction Enzymes