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.
https://hal-riip.archives-ouvertes.fr/pasteur-01081361
Contributor : Institut Pasteur Tunis
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Submitted on : Friday, November 7, 2014 - 3:53:56 PM
Last modification on : Wednesday, April 24, 2019 - 4:32:11 PM
Long-term archiving on : Sunday, February 8, 2015 - 10:51:17 AM
