Table of Contents Author Guidelines Submit a Manuscript
Table of Contents Alerts

To receive news and publication updates for Disease Markers, enter your email address in the box below.

Disease Markers
Volume 2014, Article ID 938301, 7 pages
http://dx.doi.org/10.1155/2014/938301
Research Article

Haplotype Map of Sickle Cell Anemia in Tunisia

Imen Moumni,1 Maha Ben Mustapha,1 Sarra Sassi,1 Amine Zorai,1 Ikbel Ben Mansour,1 Kais Douzi,1 Dorra Chouachi,1 Fethi Mellouli,2 Mohamed Bejaoui,2 and Salem Abbes1

1Laboratory of Molecular and Cellular Hematology, Pasteur Institute of Tunis, El Belvedere, 1002 Tunis, Tunisia
2Service d’Immuno-Hématologie Pédiatrique, Centre National de Greffe de Moelle Osseuse, Tunis, Tunisia

Received 18 February 2014; Accepted 11 June 2014; Published 2 July 2014

Academic Editor: Olav Lapaire

Copyright © 2014 Imen Moumni et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. L. Pauling, H. A. Itano, S. J. Singer, and I. C. Wells, “Sickle cell anemia, a molecular disease,” Science, vol. 110, no. 2865, pp. 543–548, 1949. View at Publisher · View at Google Scholar · View at Scopus
  2. S. E. Antonarakis, C. D. Boehm, G. R. Serjeant, C. E. Theisen, G. J. Dover, and H. H. Kazazian Jr., “Origin of the β(S) globin gene in Blacks: the contribution of recurrent mutation or gene conversion or both,” Proceedings of the National Academy of Sciences of the United States of America, vol. 81, no. 3, pp. 853–856, 1984. View at Publisher · View at Google Scholar · View at Scopus
  3. J. Pagnier, J. G. Mears, O. Dunda-Belkhodja et al., “Evidence for the multicentric origin of the sickle cell hemoglobin gene in Africa,” Proceedings of the National Academy of Sciences of the United States of America, vol. 81, no. 6, pp. 1771–1773, 1984. View at Publisher · View at Google Scholar · View at Scopus
  4. R. L. Nagel, M. E. Fabry, J. Pagnier et al., “Hematologically and genetically distinct forms of sickle cell anemia in Africa: the Senegal type and the brain type,” The New England Journal of Medicine, vol. 312, no. 14, pp. 880–884, 1985. View at Publisher · View at Google Scholar · View at Scopus
  5. A. E. Kulozik, J. S. Wainscoat, G. R. Serjeant et al., “Geographical survey of β(S)-globin gene haplotypes: evidence for an independent Asian origin of the sickle-cell mutation,” American Journal of Human Genetics, vol. 39, no. 2, pp. 239–244, 1986. View at Google Scholar · View at Scopus
  6. C. Lapoumeroulie, O. Dunda, R. Ducrocq et al., “A novel sickle cell mutation of yet another origin in Africa: the Cameroon type,” Human Genetics, vol. 89, no. 3, pp. 333–337, 1992. View at Google Scholar · View at Scopus
  7. R. L. Nagel and M. E. Fabry, “Sickle cell anemia as a multigenetic disease: new insights into the mechanism of painful crisis.,” Progress in Clinical and Biological Research, vol. 165, pp. 93–102, 1984. View at Google Scholar · View at Scopus
  8. R. Srinivas, O. Dunda, R. Krishnamoorthy et al., “Atypical haplotypes linked to the β(s) gene in Africa are likely to be the product of recombination,” American Journal of Hematology, vol. 29, no. 1, pp. 60–62, 1988. View at Publisher · View at Google Scholar · View at Scopus
  9. Y. W. Kan and A. M. Dozy, “Polymorphism of DNA sequence adjacent to human β-globin structural gene: relationship to sickle mutation,” Proceedings of the National Academy of Sciences of the United States of America, vol. 75, no. 11, pp. 5631–5635, 1978. View at Publisher · View at Google Scholar · View at Scopus
  10. M. Imen, B. M. M. Ikbel, C. Leila et al., “Restriction mapping of βS locus among tunisian sickle-cell patients,” The American Journal of Human Biology, vol. 23, no. 6, pp. 815–819, 2011. View at Publisher · View at Google Scholar · View at Scopus
  11. M. Poncz, D. Solowiejczyk, B. Harpel, Y. Mory, E. Schwartz, and S. Surrey, “Construction of human gene libraries from small amounts of peripheral blood: analysis of β-like globin genes,” Hemoglobin, vol. 6, no. 1, pp. 27–36, 1982. View at Publisher · View at Google Scholar · View at Scopus
  12. B. Perichon, A. Ragusa, C. Lapoumeroulie et al., “Inter-ethnic polymorphism of the β-globin gene locus control region (LCR) in sickle-cell anemia patients,” Human Genetics, vol. 91, no. 5, pp. 464–468, 1993. View at Google Scholar · View at Scopus
  13. M. Ben Mustapha, I. Moumni, A. Zorai, K. Douzi, A. Ghanem, and S. Abbes, “Microsatellite and single nucleotide polymorphisms in the β-globin locus control region-hypersensitive site 2: Specificity of Tunisian βs chromosomes,” Hemoglobin, vol. 36, no. 6, pp. 533–544, 2012. View at Publisher · View at Google Scholar · View at Scopus
  14. C. Lapoumeroulie, L. Castiglia, C. Ruberto et al., “Genetic variations in human fetal globin gene microsatellites and their functional relevance,” Human Genetics, vol. 104, no. 4, pp. 307–314, 1999. View at Publisher · View at Google Scholar · View at Scopus
  15. G. Trabuchet, J. Elion, G. Baudot et al., “Origin and spread of beta-globin gene mutations in India, Africa, and Mediterranea: analysis of the 5′ flanking and intragenic sequences of beta S and beta C genes,” Human Biology, vol. 63, no. 3, pp. 241–252, 1991. View at Google Scholar · View at Scopus
  16. L. Excoffier and M. Slatkin, “Maximum-likelihood estimation of molecular haplotype frequencies in a diploid population,” Molecular Biology and Evolution, vol. 12, no. 5, pp. 921–927, 1995. View at Google Scholar · View at Scopus
  17. J. Lu, R. T. Kerns, S. D. Peddada, and P. R. Bushel, “Principal component analysis-based filtering improves detection for Affymetrix gene expression arrays,” Nucleic Acids Research, vol. 39, no. 13, article e86, 2011. View at Publisher · View at Google Scholar · View at Scopus
  18. M. Boussiou, D. Loukopoulos, J. Christakis, and P. Fessas, “The origin of the sickle mutation in Greece; evidence from β(S) globin gene cluster polymorphisms,” Hemoglobin, vol. 15, no. 6, pp. 459–467, 1991. View at Publisher · View at Google Scholar · View at Scopus
  19. J. R. Aluoch, Y. Kilinc, M. Aksoy et al., “Sickle cell anaemia among Eti-Turks: haematological, clinical and genetic observations,” British Journal of Haematology, vol. 64, no. 1, pp. 45–55, 1986. View at Publisher · View at Google Scholar · View at Scopus
  20. S. Abbes, S. Fattoum, M. Vidaud, M. Goossens, and J. Rosa, “Sickle cell anemia in the Tunisian population: haplotyping and Hb F expression,” Hemoglobin, vol. 15, no. 1-2, pp. 1–9, 1991. View at Publisher · View at Google Scholar · View at Scopus
  21. K. A. Haj, S. Laradi, A. Miled, T. G. Omar, C. J. Ben, and P. Perrin, “Clinical and molecular aspects of haemoglobinopathies in Tunisia,” Clinica Chimica Acta, vol. 340, no. 1-2, pp. 127–137, 2004. View at Publisher · View at Google Scholar · View at Scopus
  22. D. Labie and J. Elion, “Bases moléculaires et physiopathologiques des maladies de l'hémoglobine Molecular and pathophysiological bases,” EMC-Hématologie, vol. 2, pp. 220–239, 2005. View at Google Scholar