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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 Salem Abbes 1, * 
* Corresponding author
1 Laboratory of Molecular and Cellular Hematology
LR11IPT07 - Laboratoire d'hématologie moléculaire et cellulaire
Abstract : β-Globin haplotypes are important to establish the ethnic origin and predict the clinical development of sickle cell disease patients (SCD). To determine the chromosomal background of β (S) Tunisian sickle cell patients, in this first study in Tunisia, we have explored four polymorphic regions of β-globin cluster on chromosome 11. It is the 5' region of β-LCR-HS2 site, the intervening sequence II (IVSII) region of two fetal ((G)γ and (A)γ) genes and the 5' region of β-globin gene. The results reveal a high molecular diversity of a microsatellite configuration describing the sequences haplotypes. The linkage disequilibrium analysis showed various haplotype combinations giving 22 "extended haplotypes". These results confirm the utility of the β-globin haplotypes for population studies and contribute to knowledge of the Tunisian gene pool, as well as establishing the role of genetic markers in physiopathology of SCD.
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Imen Moumni, Maha Ben Mustapha, Sarra Sassi, Amine Zorai, Ikbel Ben Mansour, et al.. Haplotype map of sickle cell anemia in Tunisia.. Disease Markers, Hindawi, 2014, 2014, pp.938301. ⟨10.1155/2014/938301⟩. ⟨pasteur-01081361⟩

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