A gene conversion located 5' to the A gamma gene in linkage disequilibrium with the Bantu haplotype in sickle cell anemia.

E E Bouhassira; H Lachman; R Krishnamoorthy; D Labie; R L Nagel

doi:10.1172/JCI114118

Division of Hematology, Albert Einstein College of Medicine, Bronx, NY 10461.

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Division of Hematology, Albert Einstein College of Medicine, Bronx, NY 10461.

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Division of Hematology, Albert Einstein College of Medicine, Bronx, NY 10461.

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Division of Hematology, Albert Einstein College of Medicine, Bronx, NY 10461.

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Division of Hematology, Albert Einstein College of Medicine, Bronx, NY 10461.

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Published in Volume 83, Issue 6 on June 1, 1989
J Clin Invest. 1989;83(6):2070–2073. https://doi.org/10.1172/JCI114118.
© 1989 The American Society for Clinical Investigation

Published June 1, 1989 - Version history

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.

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