A gene conversion located 5' to the (A)γ gene in linkage disequilibrium with the Bantu haplotpye in sickle cell anemia

E. E. Bouhassira, H. Lachman, R. Krishnamoorthy, D. Labie, R. L. Nagel

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Cloning and sequencing of the γ-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)γ sequence by a (G)γ sequence in the promoter area of the (A)γ gene. This event is similar to another gene conversion believed to be responsible for the very high homology between γ-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 β(s) gene. No correlation was found between (G)γ/(A)γ ratio and the presence of the gene conversion among Bantu haplotype patients, thus excluding a portion of the γ gene sequence in the determination of this ratio.

Original languageEnglish (US)
Pages (from-to)2070-2073
Number of pages4
JournalJournal of Clinical Investigation
Issue number6
StatePublished - Jan 1 1989


ASJC Scopus subject areas

  • Medicine(all)

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