Molecular Basis of beta-Thalassemia in Morocco: Possible Origins of the Molecular Heterogeneity

摘要

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.