1. The beta-thalassaemia mutations in the population of Cyprus.
- Author
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Baysal E, Indrak K, Bozkurt G, Berkalp A, Aritkan E, Old JM, Ioannou P, Angastiniotis M, Droushiotou A, and Yüregir GT
- Subjects
- Alleles, Cyprus, Greece ethnology, Humans, Mutation, Turkey ethnology, Thalassemia genetics
- Abstract
We have identified the beta-thalassaemia alleles in nearly all known Turkish Cypriot beta-thalassaemia homozygotes and in over 700 Greek Cypriot beta-thalassaemia heterozygotes living on the island of Cyprus. The data confirmed earlier observations that the IVS-I-100 (G-->A) mutation is present for about 74-80%, while three other alleles [IVS-II-745 (C-->G), IVS-I-6 (T-->C), IVS-I-1 (G-->A)] occur at frequencies of 5-8%. Nearly identical percentages were observed for the two Cypriot groups, quite different from those for beta-thalassaemia patients from Greece and Turkey. This suggests close contacts between the two Cypriot communities during many centuries without a major recent influence from Greek or Turkish beta-thalassaemia carriers.
- Published
- 1992
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