Beta thalassaemia mutations in Turkish Cypriots.
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.
Sozuoz
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Turkish Cypriot Thalassaemia Control Program, Nicosia, Cyprus.
Berkalp
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Figus
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Loi
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Pirastu
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Cao
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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
D015345:Oligonucleotide Probes; D004247:DNA; D015245:Deoxyribonuclease BamHI