title: The beta-thalassaemia mutations in the population of Cyprus.
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.
authors.affiliation: Department of Biochemistry and Molecular Biology, Medical College of Georgia, Augusta 30912-2100.
authors.forename: E
authors.initials: E
authors.lastname: Baysal
authors.forename: K
authors.initials: K
authors.lastname: Indrak
authors.forename: G
authors.initials: G
authors.lastname: Bozkurt
authors.forename: A
authors.initials: A
authors.lastname: Berkalp
authors.forename: E
authors.initials: E
authors.lastname: Aritkan
authors.forename: J M
authors.initials: JM
authors.lastname: Old
authors.forename: P
authors.initials: P
authors.lastname: Ioannou
authors.forename: M
authors.initials: M
authors.lastname: Angastiniotis
authors.forename: A
authors.initials: A
authors.lastname: Droushiotou
authors.forename: G T
authors.initials: GT
authors.lastname: Yüregir
mesh_terms: D000483:Alleles; D003535:Cyprus; D006115:Greece / Q000208:ethnology; D006801:Humans; D009154:Mutation; D013789:Thalassemia / Q000235:genetics*; D014421:Turkey / Q000208:ethnology