The spectrum of bêta thalassaemia mutations in the UAE national population.
The bêta thalassaemia alleles in 50 bêta thalassaemia heterozygotes originating from many parts of the United Arab Rmirates (UAR) have been characterised using the allele specific priming technique of the polymerase chain reaction (PCR).
The IVSI-5 (G-C) mutation was found to be present in 66%, while six other alleles occurred at the much lower frequencies of 2% to 8%. These were codon 8/9 (+G), IVSI-1, 3' end (-25 bp), codon 5 (-CT), IVSII-I (G-A), codon 30 (G-C), and codon 15 (G-A).
The mutation types and percentages are compared with other Mediterranean Arab countries and neighbouring areas.
It is proposed that IVSI-5 and other Asian Indian mutations were introduced into the UAR by population migration from the region previously known as Baluchistan.
Mots-clés Pascal : Thalassémie bêta, Homme, Mutation, Emirats Arabes Unis, Asie, Diagnostic, Hétérozygotie, Réaction chaîne polymérase, Prénatal, Epidémiologie, Hémopathie, Anémie hémolytique, Hémoglobinopathie, Maladie héréditaire, Biologie moléculaire
Mots-clés Pascal anglais : bêta-Thalassemia, Human, Mutation, United Emirates, Asia, Diagnosis, Heterozygozity, Polymerase chain reaction, Prenatal, Epidemiology, Hemopathy, Hemolytic anemia, Hemoglobinopathy, Genetic disease, Molecular biology
Notice produite par :
Inist-CNRS - Institut de l'Information Scientifique et Technique
Cote : 94-0170427
Code Inist : 002B19A01. Création : 199406.