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.
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.
D001483:Base Sequence; D002874:Chromosome Mapping; D004262:DNA Restriction Enzymes / Q000378:metabolism; D004720:Endonucleases; D005319:Fetal Hemoglobin / Q000235:genetics*; D005786:Gene Expression Regulation; D005809:Genes, Regulator; D005914:Globins / Q000235:genetics*; D006402:Hematologic Diseases / Q000235:genetics*; D006801:Humans; D009154:Mutation; D015719:Single-Strand Specific DNA and RNA Endonucleases
D005914:Globins; D005319:Fetal Hemoglobin; D004720:Endonucleases; D004262:DNA Restriction Enzymes; D015719:Single-Strand Specific DNA and RNA Endonucleases