The spectrum of beta thalassaemia mutations in the UAE national population.
Open Access
- 1 January 1994
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 31 (1) , 59-61
- https://doi.org/10.1136/jmg.31.1.59
Abstract
The beta thalassaemia alleles in 50 beta thalassaemia heterozygotes originating from many parts of the United Arab Emirates (UAE) 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-1 (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 UAE by population migration from the region previously known as Baluchistan. These findings should be useful for genetic counselling and the development of a first trimester prenatal diagnosis programme based on direct detection of mutations in the UAE.Keywords
This publication has 8 references indexed in Scilit:
- The β- and δ-Thalassemia RepositoryHemoglobin, 1992
- The spectrum of β‐thalassaemia mutations on the Indian subcontinent: the basis for prenatal diagnosisBritish Journal of Haematology, 1991
- Molecular characterization of β-thalassemia mutations in EgyptHuman Genetics, 1990
- THE MOLECULAR-BASIS OF BETA-THALASSEMIA IN LEBANON - APPLICATION TO PRENATAL-DIAGNOSIS1987
- The molecular basis of beta-thalassemia in Lebanon: application to prenatal diagnosisBlood, 1987
- Red cell genetic abnormalities in Peninsular Arabs: sickle haemoglobin, G6PD deficiency, and alpha and beta thalassaemia.Journal of Medical Genetics, 1986
- beta-Thalassemia in Chinese: use of in vivo RNA analysis and oligonucleotide hybridization in systematic characterization of molecular defects.Proceedings of the National Academy of Sciences, 1984
- Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants.Proceedings of the National Academy of Sciences, 1977