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
Open Access
- 1 December 1986
- journal article
- Published by American Society of Hematology in Blood
- Vol. 68 (6) , 1389-1393
- https://doi.org/10.1182/blood.v68.6.1389.1389
Abstract
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.Keywords
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