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The predominance of codon 39 (c>t) mutation of HBB gene in a portion of the Algerian population (Northeast Algeria)

Belhadi Kamilia, Yahia Mouloud, Gribaa Moez, Bendaoud Fadhila, Ben Charfeddine Ilhem, Manoubi Wiem
  • Belhadi Kamilia
    Laboratory of Biotechnology of Bioactive Molecules and Cell Pathophysiology, University of Batna, Algeria | belhadikamilia@yahoo.fr
  • Yahia Mouloud
    Laboratory of Biotechnology of Bioactive Molecules and Cell Pathophysiology, University of Batna, Algeria
  • Gribaa Moez
    Laboratory of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, Tunisia
  • Bendaoud Fadhila
    Department of Pediatrics, University Hospital of Batna, Algeria
  • Ben Charfeddine Ilhem
    Laboratory of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, Tunisia
  • Manoubi Wiem
    Laboratory of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, Tunisia

Abstract

This study was planned to determine the frequency of β-thalassemia mutations in Batna region (Northeast Algeria). Nineteen blood samples of clinically thalassemic children patients were collected from Department of Pediatrics, University Hospital of Batna. We carried out the molecular genetics of beta globin gene by the method of minisequencing using Snapshot™ kit (Applied Biosystems) in search of the four most common HBB genetic variants including three β-thalassemia mutations: codon 39(C>T) (HBB: c.118C>T), IVSI-110(G>A) (HBB: c.93-21G>A), and IVSI-1-2(T>G) (HBB: c.92+2T>G), as well as the hemoglobin S variant (HBB: c.20A>T). We used direct DNA sequencing to detect the rare mutations of beta-globin gene. We have revealed the presence of four different β-globin gene mutations responsible for β-thalassemia in Batna region. According to our results, the nonsense mutation at codon 39 (C>T) is the most frequent mutation type in our province, the same as other geographical regions of Algeria. It is followed by codon 54(-T), detected in a second Algerian family (the proband was homozygote), and the first association of Hb Knossos: codon 27 (G>T) allele with codon 39 (C>T) in the Algerian population. Here we reportws also the association of codon 39(C>T) with IVS-I-110 (G>A). Our preliminary results show the predominance of codon 39 (c>t) mutation of HBB gene in Batna region.

Keywords

Beta-thalassemia; Codon 39 (c>t) mutation; HBB gene; Algeria

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Submitted: 2016-11-22 16:02:04
Published: 2017-04-20 10:06:55
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