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The British form of hereditary persistence of fetal hemoglobin results from a single base mutation adjacent to an S1 hypersensitive site 5' to the A gamma globin gene

VE Tate, WG Wood and DJ Weatherall

The G gamma and A gamma genes of an individual homozygous for the British form of A gamma nondeletion hereditary persistence of fetal hemoglobin have been cloned and partially sequenced. The G gamma gene was normal, but the A gamma gene was found to have a single base change (T----C) at -198 bp relative to the cap site. Supercoiled plasmids containing normal gamma-genes or the mutant A gamma-gene displayed an S1-hypersensitive site immediately 5' to the base change.

Volume 68, Issue 6, pp. 1389-1393, 12/01/1986
Copyright © 1986 by The American Society of Hematology


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A. Bacolla, M. J. Ulrich, J. E. Larson, T. J. Ley, and R. D. Wells
An Intramolecular Triplex in the Human [IMAGE]-Globin 5`-Flanking Region Is Altered by Point Mutations Associated with Hereditary Persistence of Fetal Hemoglobin
J. Biol. Chem., October 13, 1995; 270(41): 24556 - 24563.
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  Copyright © 1986 by American Society of Hematology         Online ISSN: 1528-0020