title: Beta thalassaemia mutations in Turkish Cypriots.
abstract: Using oligonucleotide hybridisation or restriction endonuclease analysis, we have characterised the molecular defect in 94 patients with thalassaemia major and four with thalassaemia intermedia of Turkish Cypriot descent. We found that four mutations, namely beta+ IVS-1 nt 110, beta zero IVS-1 nt, beta+ IVS-1 nt 6, and beta+ IVS-2 nt 745 were prevalent, accounting for 69.9%, 11.7%, 8.7%, and 5.6% respectively of the beta thalassaemia chromosomes. This information may help in the organisation of a large scale prevention programme based on fetal diagnosis of beta thalassaemia by DNA analysis in the Turkish population.
authors.affiliation: Turkish Cypriot Thalassaemia Control Program, Nicosia, Cyprus.
authors.forename: A
authors.initials: A
authors.lastname: Sozuoz
authors.forename: A
authors.initials: A
authors.lastname: Berkalp
authors.forename: A
authors.initials: A
authors.lastname: Figus
authors.forename: A
authors.initials: A
authors.lastname: Loi
authors.forename: M
authors.initials: M
authors.lastname: Pirastu
authors.forename: A
authors.initials: A
authors.lastname: Cao
mesh_terms: D003535:Cyprus; D004247:DNA / Q000032:analysis; D015245:Deoxyribonuclease BamHI; D005260:Female; D006801:Humans; D009154:Mutation; D009693:Nucleic Acid Hybridization; D015345:Oligonucleotide Probes; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013789:Thalassemia / Q000235:genetics*; D014421:Turkey / Q000208:ethnology
chemical_list: D015345:Oligonucleotide Probes; D004247:DNA; D015245:Deoxyribonuclease BamHI