The detection and use of hemoglobin mutants in the direct analysis of human
globin genes
PF Little, E Whitelaw, G Annison, R Williamson, JM Kooter, RA Flavell, M Goossens, GR Sergeant and D Montgomery
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.
Volume 55,
Issue 6,
pp. 1060-1062,
06/01/1980
Copyright © 1980 by The American Society of Hematology
