Haplotype Map of Sickle Cell Anemia in Tunisia. (2nd July 2014)

• Record Type: Journal Article
• Authors: Moumni, Imen; Ben Mustapha, Maha; Sassi, Sarra; Zorai, Amine; Ben Mansour, Ikbel; Douzi, Kais; Chouachi, Dorra; Mellouli, Fethi; Bejaoui, Mohamed; Abbes, Salem
• Other Names: Lapaire Olav Academic Editor.
• Is Part Of: Disease markers. Volume 2014(2014)
• Publication Date: 2014-07-02
• Subjects: Diagnosis -- Periodicals; Biochemical markers -- Periodicals; Pathology -- Periodicals; 616
• DOI: 10.1155/2014/938301
• Languages: English
• ISSNs: 0278-0240

Abstract

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 (γ G and γ A ) 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.