The detection and use of hemoglobin mutants in the direct analysis of human globin genes.
Many human globin-chain mutants contain amino acid replacements that result from single base changes in the corresponding globin gene. Using recombinants, the coding sequences of each of the alpha-, beta-, Ggamma-, and Agamma-globin genes have now been determined. Those sequences of DNA that are cleaved by a number of specific restriction endonucleases have been identified and accurately positioned. Mutations at these sequences abolish the restriction site, and therefore, the pattern of DNA fragments containing hybridizing globin-gene sequences is altered compared to DNA from normal persons. This allows the identification of one of a pair of cross-hybridizing human globin-gene sequences, as is shown here for the two alpha-globin, the two gamma-globin, and the delta- and beta-globin genes.
D000595:Amino Acid Sequence; D004262:DNA Restriction Enzymes; D005260:Female; D005333:Fetus; D005796:Genes; D005815:Genetic Code; D005914:Globins / Q000235:genetics*; D006454:Hemoglobins / Q000235:genetics*; D006801:Humans; D009154:Mutation; D011247:Pregnancy
D006454:Hemoglobins; D005914:Globins; D004262:DNA Restriction Enzymes