CHINESE A-GAMMA FETAL HEMOGLOBIN - C TO T SUBSTITUTION AT POSITION - 196 OF THE A-GAMMA GENE PROMOTER
- 1 June 1986
- journal article
- research article
- Vol. 67 (6), 1777-1779
Abstract
The molecular basis for the hereditary persistence of fetal hemoglobin (HPFH) phenotype was studied in a Chinese individual who was heterozygous for a nondeletion form of A.gamma.-HPFH. Both allelic A.gamma.-globin genes were isolated by molecular cloning and subjected to nucleotide sequence analysis. One A.gamma. gene promoter showed a cytosine to thymine transition at position -196, whereas the other promoter was normal. This mutation at position -196 has now been found in unrelated individuals with the A.gamma.-HPFH phenotype from Italy, Sardinia, and China, suggesting that it may have arisen independently. The implications of this mutation for models of fetal globin gene switching are discussed.This publication has 12 references indexed in Scilit:
- RESTRICTION ENDONUCLEASE MAPPING OF GAMMA-DELTA-BETA-GLOBIN REGION IN G-GAMMA(BETA)+ HPFH AND A CHINESE A-GAMMA-HPFH VARIANT1983
- Delta beta (F)-thalassaemia in Sardinia.Journal of Medical Genetics, 1982
- Molecular comparison of delta beta-thalassemia and hereditary persistence of fetal hemoglobin DNAs: evidence of a regulatory area?Proceedings of the National Academy of Sciences, 1982
- Linkage of β-thalassaemia mutations and β-globin gene polymorphisms with DNA polymorphisms in human β-globin gene clusterNature, 1982
- Restriction endonuclease maps of the β-like globin gene cluster in the British and Greek forms of HPFH, and for one example ofGγβ+HPFHBritish Journal of Haematology, 1982
- Nonrandom association of polymorphic restriction sites in the β-globin gene clusterProceedings of the National Academy of Sciences, 1982
- A history of the human fetal globin gene duplicationCell, 1981
- Human fetal gγ- and Aγ-globin genes: Complete nucleotide sequences suggest that DNA can be exchanged between these duplicated genesCell, 1980
- Characterisation of deletions which affect the expression of fetal globin genes in manNature, 1979
- DNA sequencing with chain-terminating inhibitorsProceedings of the National Academy of Sciences, 1977