A gene conversion located 5' to the A gamma gene in linkage disequilibrium with the Bantu haplotype in sickle cell anemia.
Open Access
- 1 June 1989
- journal article
- research article
- Published by American Society for Clinical Investigation in Journal of Clinical Investigation
- Vol. 83 (6) , 2070-2073
- https://doi.org/10.1172/jci114118
Abstract
Cloning and sequencing of the gamma-globin gene of a sickle cell anemia patient homozygous for the Bantu haplotype has revealed a gene conversion that involves the replacement of an A gamma sequence by a G gamma sequence in the promoter area of the A gamma gene. This event is similar to another gene conversion believed to be responsible for the very high homology between gamma-globin genes, suggesting that the promoter area of these genes is prone to this type of genetic rearrangement. Further analysis demonstrated that the chromosome bearing this gene conversion has a very high frequency among Bantu chromosomes and a very low or nil frequency in other haplotypes linked to the beta s gene. No correlation was found between the G gamma/A gamma ratio and the presence of the gene conversion among Bantu haplotype patients, thus excluding a portion of the gamma gene sequence in the determination of this ratio.This publication has 16 references indexed in Scilit:
- Four base‐pair DNA deletion in human Aγ globin‐gene promoter associated with low Aγ expression in adultsBritish Journal of Haematology, 1988
- GEOGRAPHICAL SURVEY OF BETA-S-GLOBIN GENE HAPLOTYPES - EVIDENCE FOR AN INDEPENDENT ASIAN ORIGIN OF THE SICKLE-CELL MUTATION1986
- Hematologically and Genetically Distinct Forms of Sickle Cell Anemia in AfricaNew England Journal of Medicine, 1985
- A point mutation in the Aγ-globin gene promoter in Greek hereditary persistence of fetal haemoglobinNature, 1985
- G to A substitution in the distal CCAAT box of the Aγ-globin gene in Greek hereditary persistence of fetal haemoglobinNature, 1985
- G gamma beta+ hereditary persistence of fetal hemoglobin: cosmid cloning and identification of a specific mutation 5' to the G gamma gene.Proceedings of the National Academy of Sciences, 1984
- Evidence for the multicentric origin of the sickle cell hemoglobin gene in Africa.Proceedings of the National Academy of Sciences, 1984
- Direct detection of the common Mediterranean beta-thalassemia gene with synthetic DNA probes. An alternative approach for prenatal diagnosis.Journal of Clinical Investigation, 1983
- A history of the human fetal globin gene duplicationCell, 1981
- DNA sequencing with chain-terminating inhibitorsProceedings of the National Academy of Sciences, 1977