%0 Journal Article %T Rapid and inexpensive detection of common HBB gene mutations in Tunisian population by high-resolution melting analysis: Implication for molecular diagnosis %+ Laboratoire d'hématologie moléculaire et cellulaire (LR11IPT07) %+ Institut des Matériaux, de Microélectronique et des Nanosciences de Provence (IM2NP) %A Ouragini, Houyem %A Haddad, Fayrouz. %A Darragi, Imen %A Abbes, Salem %< avec comité de lecture %@ 1024-5332 %J Hematology %I Maney Publishing %V 19 %N 2 %P 80 - 84 %8 2014-03 %D 2014 %R 10.1179/1607845413Y.0000000096 %M 23683733 %K beta-Thalassemia %K HBB gene %K Common mutations %K High-resolution melting %K Mutation analysis %K Molecular diagnosis %Z Life Sciences [q-bio] %Z Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology %Z Life Sciences [q-bio]/GeneticsJournal articles %X In Tunisia, beta-thalassemia is a common hereditary disease with a carrying rate of 2.21%. Up to now, detection of responsible mutations was made by laborious, expensive, and/or time consuming methods. The aim of this study is to develop and validate a specific assay for detection of the two most frequent mutations in Tunisian population, the IVS-I-110 (G -> A)and Cd39 (C -> T) mutations. In this study, we optimize high resolution melting analysis (HRMA) conditions for these mutations, using control DNAs. Then, we evaluate the strength of this methodology by screening a cohort of patients with beta-thalassemia. All examined reference DNA samples were unambiguously distinguished from each other. For the blinded test, the results were completely compatible with direct sequencing, performed after the HRMA. As HRMA represents a highly sensitive and high-throughput gene scanning method, it can provide timely diagnosis at low cost for effective clinical management of beta-thalassemia. %G English %L pasteur-01375110 %U https://riip.hal.science/pasteur-01375110 %~ PASTEUR %~ RIIP %~ UNIV-TLN %~ CNRS %~ UNIV-AMU %~ RIIP_TUNIS %~ IM2NP