Molecular basis of beta-thalassemia in Morocco: possible origins of the molecular heterogeneity |
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Authors: | Agouti Imane Badens Catherine Abouyoub Ahmed Levy Nicolas Bennani Mohcine |
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Institution: | Laboratoire de Biologie Appliquée, Faculté des Sciences et Techniques , Tanger, Maroc. imaneagouti@yahoo.fr |
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Abstract: | We present the molecular spectrum of beta-thalassemia in the Moroccan population obtained by the identification of molecular defects responsible for this disease, and herewith we show that the Moroccan population is genetically heterogeneous; 18 different mutations have been found in the 158 beta-globin chromosomes studied. Eight mutations codon 39 (C --> T), FSC-8 (-AA), IVS-II-745 (C --> G), -29 (A --> G), FSC-6 (-A), IVS-I-110 (G --> A), IVS-I-2 (T --> C), and IVS-I-1 (G --> A)] out of 18 beta-thalassemia mutations identified accounted for 76% of the Moroccan beta-thalassemia chromosomes. Restriction fragment length polymorphism (RFLP) haplotype analysis showed that the observed genetic diversity originated from both new mutational events and gene flow due to migration. |
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