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The beta-thalassaemia mutations in the population of Cyprus

E Baysal, K Indrak, G Bozkurt, A Berkalp, E Aritkan, JM Old, P Ioannou, M Angastiniotis, A Droushiotou, GT Yuregir

. 1992 ; 81 (4) : 607-609.

Language English Country England, Great Britain

Document type Comparative Study, Research Support, U.S. Gov't, P.H.S.

Persistent link   https://www.medvik.cz/link/bmc13029035

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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.

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$a 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.
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