Document Detail


Haplotype map of sickle cell anemia in Tunisia.
MedLine Citation:
PMID:  25197158     Owner:  NLM     Status:  In-Data-Review    
Abstract/OtherAbstract:
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.
Authors:
Imen Moumni; Maha Ben Mustapha; Sarra Sassi; Amine Zorai; Ikbel Ben Mansour; Kais Douzi; Dorra Chouachi; Fethi Mellouli; Mohamed Bejaoui; Salem Abbes
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Publication Detail:
Type:  Journal Article     Date:  2014-07-02
Journal Detail:
Title:  Disease markers     Volume:  2014     ISSN:  1875-8630     ISO Abbreviation:  Dis. Markers     Publication Date:  2014  
Date Detail:
Created Date:  2014-09-08     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8604127     Medline TA:  Dis Markers     Country:  United States    
Other Details:
Languages:  eng     Pagination:  938301     Citation Subset:  IM    
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