A 6-bp deletion 5' to the G gamma globin gene in beta S chromosomes bearing the Bantu haplotype.
Sequencing of the upstream region of a human G gamma gene linked to the Bantu haplotype revealed a 6-bp deletion between site -400 and -395. Further analysis revealed that this mutation is present in 37% of the sickle cell anemia patients bearing the Bantu haplotype and is absent in the other haplotypes linked to the beta S gene, as well as in most chromosomes bearing the beta A-globin gene. The most parsimonious interpretation of the data is that the deletion is a very recent event which occurred in the subset of Bantu chromosomes already bearing a gene conversion of the A gamma gene by the G gamma gene. Its presence in black beta S chromosomes is most probably the consequence of a crossing-over between a Bantu beta S chromosome (with deletion and gene conversion) and a beta A chromosome.
Bouhassira
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EE
Division of Hematology, Montefiore Medical Center, Bronx, New York.
Nagel
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RL
D000349:Africa; D000755:Anemia, Sickle Cell / Q000097:blood / Q000235:genetics*; D001483:Base Sequence; D002872:Chromosome Deletion; D005785:Gene Conversion; D005914:Globins / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D008969:Molecular Sequence Data; D005810:Multigene Family; D016133:Polymerase Chain Reaction
D005914:Globins