Abstract
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.
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Selected References
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- Bouhassira E. E., Lachman H., Krishnamoorthy R., Labie D., Nagel R. L. A gene conversion located 5' to the A gamma gene in linkage disequilibrium with the Bantu haplotype in sickle cell anemia. J Clin Invest. 1989 Jun;83(6):2070–2073. doi: 10.1172/JCI114118. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Efstratiadis A., Posakony J. W., Maniatis T., Lawn R. M., O'Connell C., Spritz R. A., DeRiel J. K., Forget B. G., Weissman S. M., Slightom J. L. The structure and evolution of the human beta-globin gene family. Cell. 1980 Oct;21(3):653–668. doi: 10.1016/0092-8674(80)90429-8. [DOI] [PubMed] [Google Scholar]
- Gilman J. G. Expression of G gamma and A gamma globin genes in human adults. Hemoglobin. 1988;12(5-6):707–716. doi: 10.3109/03630268808991664. [DOI] [PubMed] [Google Scholar]
- Gilman J. G., Huisman T. H. DNA sequence variation associated with elevated fetal G gamma globin production. Blood. 1985 Oct;66(4):783–787. [PubMed] [Google Scholar]
- Labie D., Dunda-Belkhodja O., Rouabhi F., Pagnier J., Ragusa A., Nagel R. L. The -158 site 5' to the G gamma gene and G gamma expression. Blood. 1985 Dec;66(6):1463–1465. [PubMed] [Google Scholar]
- Nagel R. L., Fabry M. E., Pagnier J., Zohoun I., Wajcman H., Baudin V., Labie D. Hematologically and genetically distinct forms of sickle cell anemia in Africa. The Senegal type and the Benin type. N Engl J Med. 1985 Apr 4;312(14):880–884. doi: 10.1056/NEJM198504043121403. [DOI] [PubMed] [Google Scholar]
- Nagel R. L., Rao S. K., Dunda-Belkhodja O., Connolly M. M., Fabry M. E., Georges A., Krishnamoorthy R., Labie D. The hematologic characteristics of sickle cell anemia bearing the Bantu haplotype: the relationship between G gamma and HbF level. Blood. 1987 Apr;69(4):1026–1030. [PubMed] [Google Scholar]
- Pagnier J., Mears J. G., Dunda-Belkhodja O., Schaefer-Rego K. E., Beldjord C., Nagel R. L., Labie D. Evidence for the multicentric origin of the sickle cell hemoglobin gene in Africa. Proc Natl Acad Sci U S A. 1984 Mar;81(6):1771–1773. doi: 10.1073/pnas.81.6.1771. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Sutton M., Bouhassira E. E., Nagel R. L. Polymerase chain reaction amplification applied to the determination of beta-like globin gene cluster haplotypes. Am J Hematol. 1989 Sep;32(1):66–69. doi: 10.1002/ajh.2830320113. [DOI] [PubMed] [Google Scholar]