Molecular basis of beta-thalassemia in Morocco: possible origins of the molecular heterogeneity.
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.
Agouti
Imane
I
Laboratoire de Biologie Appliquée, Faculté des Sciences et Techniques , Tanger, Maroc. imaneagouti@yahoo.fr
Badens
Catherine
C
Abouyoub
Ahmed
A
Levy
Nicolas
N
Bennani
Mohcine
M
D000352:Africa, Northern / Q000208:ethnology; D018912:Arabs / Q000235:genetics; D004641:Emigration and Immigration; D005006:Ethnicity / Q000235:genetics; D005060:Europe / Q000208:ethnology; D051456:Gene Flow; D006239:Haplotypes; D006801:Humans; D009018:Morocco; D009154:Mutation; D017354:Point Mutation; D012150:Polymorphism, Restriction Fragment Length; D017384:Sequence Deletion; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000235:genetics*
D055544:beta-Globins