Am J Hum Biol
Laboratory of Molecular and Cellular Hematology, Pasteur Institute, Tunis, Tunisia.
Published: May 2016
Objectives: Different thalassemia mutations have been reported in various ethnic groups and geographical regions in Tunisia. In the present study, we have investigated two rare β(+) -thalassemia mutations, that have not previously been reported in the Tunisian population [β -56 (G > C); HBBc. -106 G > C] and [β -83 (G > A); HBBc. -133 G > A].
Methods: The whole β-globin gene was directly sequenced, and haplotype analysis was conducted through a PCR/RFLP method.
Results: Two new mutations were identified for the first time in Tunisia. They are located within the promoter region of β-globin gene at position -56 (G > C) and -83 (G > A). Linkage analysis using β-globin gene cluster haplotypes showed that these two mutations were associated with Mediterranean β-haplotype IX [- + - + + + +] and framework 2 (FW2) [CCTCT].
Conclusions: The two newly described mutations lead to the β(+) -thalassemia among Tunisian patients. The haplotype analysis and framework assignment have helped to identify the chromosomal background associated with these mutations, and determine their origin and spread.
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http://dx.doi.org/10.1002/ajhb.22695 | DOI Listing |
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