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Rapid and inexpensive detection of common HBB gene mutations in Tunisian population by high-resolution melting analysis: Implication for molecular diagnosis

Abstract : 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.
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https://hal-riip.archives-ouvertes.fr/pasteur-01375110
Contributor : Institut Pasteur Tunis Connect in order to contact the contributor
Submitted on : Sunday, October 2, 2016 - 11:19:30 PM
Last modification on : Tuesday, October 19, 2021 - 11:00:00 PM

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Houyem Ouragini, Fayrouz. Haddad, Imen Darragi, Salem Abbes. Rapid and inexpensive detection of common HBB gene mutations in Tunisian population by high-resolution melting analysis: Implication for molecular diagnosis. Hematology, Maney Publishing, 2014, 19 (2), pp.80 - 84. ⟨10.1179/1607845413Y.0000000096⟩. ⟨pasteur-01375110⟩

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