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Haplotype map of sickle cell anemia in Tunisia.

ABSTRACT: ?-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 ? (S) Tunisian sickle cell patients, in this first study in Tunisia, we have explored four polymorphic regions of ?-globin cluster on chromosome 11. It is the 5' region of ?-LCR-HS2 site, the intervening sequence II (IVSII) region of two fetal ((G)? and (A)?) genes and the 5' region of ?-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 ?-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.

SUBMITTER: Moumni I

PROVIDER: S-EPMC4147790 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature

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Haplotype map of sickle cell anemia in Tunisia.

Moumni Imen I Ben Mustapha Maha M Sassi Sarra S Zorai Amine A Ben Mansour Ikbel I Douzi Kais K Chouachi Dorra D Mellouli Fethi F Bejaoui Mohamed M Abbes Salem S

Disease markers 20140702

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 re ...[more]

PMID: 25197158

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