The spectrum of β-thalassemia mutations in the oran region of algeria
- 1 January 1994
- journal article
- case report
- Published by Taylor & Francis in Hemoglobin
- Vol. 18 (3) , 211-219
- https://doi.org/10.3109/03630269409043621
Abstract
In order to delineate the spectrum of beta-globin gene defects causing beta-thalassemia in the Oran region of Algeria, we have analyzed a representative sample of 31 beta-thalassemia patients. This led to the detection of 10 mutations. Four of them [nonsense codon 39 (C->T), IVS-I-110 (G->A), IVS-I-2 (T->C), and frameshift codon 6 (-A)] account for approximately 77% of the beta-thalassemia chromosomes. Three of these mutants are also widespread in Mediterranean populations, whereas the fourth, IVS-I-2 (T->C), appears typical of the Oranese population. The six other variants are less frequent. The possible origin of these mutated alleles, either by recurrent mutational event or by migration from other populations, is discussed.Keywords
This publication has 15 references indexed in Scilit:
- The spectrum of β‐thalassaemia in Algeria: possible origins of the molecular heterogeneity and a tentative diagnostic strategyBritish Journal of Haematology, 1993
- A new mutation at IVS1 nt 2(T----A), in beta-thalassemia from AlgeriaBlood, 1990
- FREQUENCIES OF COMMON β-THALASSAEMIA ALLELES AMONG DIFFERENT POPULATIONS: VARIABILITY IN CLINICAL SEVERITYBritish Journal of Haematology, 1990
- Severe Hb S‐β°‐thalassaemia with a T → C substitution in the donor splice site of the first intron of the β‐globin geneBritish Journal of Haematology, 1989
- Generation of single-stranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQA locus.Proceedings of the National Academy of Sciences, 1988
- DNA sequence analysis with a modified bacteriophage T7 DNA polymerase.Proceedings of the National Academy of Sciences, 1987
- Evidence for the multicentric origin of the sickle cell hemoglobin gene in Africa.Proceedings of the National Academy of Sciences, 1984
- Linkage of β-thalassaemia mutations and β-globin gene polymorphisms with DNA polymorphisms in human β-globin gene clusterNature, 1982
- Organization and Expression of Eucaryotic Split Genes Coding for ProteinsAnnual Review of Biochemistry, 1981
- DNA sequencing with chain-terminating inhibitorsProceedings of the National Academy of Sciences, 1977