Summary
Using restriction endonuclease analysis, oligonucleotide hybridization, and direct sequencing of amplified genomic DNA, we characterized 11 different mutations in the DNA of 26 patients from Turkey homozygous for β-thalassemia. We found that mutations IVS-1 nt110, IVS-1 nt6, and the frameshift at codon 8 were the most frequent. By direct sequencing we characterized two very rare mutations not previously reported in the Turkish population: a frameshift +1 at codons 9/10 and a nonsense mutation at codon 15.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Akar N, Cavdar AO, Dessi E, Loi A, Pirastu M, Cao A (1987) β-Thalassaemia mutations in the Turkish population. J Med Genet 24:378–379
Antonarakis SE, Kazazian HH Jr, Orkin SH (1985) DNA-polymorphism and molecular pathology of the human globin gene clusters. Hum Genet 69:1–14
Diaz-Chico JC, Yang KG, Stoming TA, Efremov DG, Kutlar A, Kutlar F, Aksoy M, Altay C, Gurgey A, Kininc Y, Huisman THJ (1988) Mild and severe β-thalassemia among homozygotes from Turkey: identification of the types by hybridization of amplified DNA with synthetic probes. Blood 71:248–251
Erlich HÄ, Gelfand DH, Saiki RK (1988) Specific DNA amplification. Nature 331:461
Kazazian HH Jr, Orkin SH, Antonarakis SE, Sexton JP, Boehm CD, Goff SC, Waber PG (1984) Molecular characterization of seven β-thalassemia mutations in Asian Indians. EMBO J 3:593–596
Oehme R, Kohne E, Horst J (1985) DNA-polymorphic patterns linked to the β-globin genes in German families affected with hemoglobinopathies and thalassemias: a comparison to other ethnic groups. Hum Genet 71:219–222
Orkin SH, Goff SC (1981) Nonsense and frameshift mutations in β°-thalassemia detected in cloned β-globin genes. J Biol Chem 256:9782–9784
Orkin SH, Kazazian HH Jr, Antonarakis SE, Goff SC, Boehm CD, Sexton JP, Waber PG, Giardina PJV (1982) Linkage of β-thalassaemia mutations and β-globin gene cluster. Nature 296:627–631
Pirastu M, Kan YW, Cao A, Conner BJ, Teplitz RL, Wallace RB (1983) Prenatal diagnosis of β thalassemia. Detection of a single nucleotide mutation in DNA. N Engl J Med 309:284–287
Rosatelli C, Leoni GB, Tuveri T, Scalas MT, Di Tucci A, Cao A (1987) Thalassemia mutations in Sardinians: implication for prenatal diagnosis. J Med Genet 24:97–100
Southern EM (1975) Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol 98:503–517
Spiegelberg R, Aulehla-Scholz C, Erlich H, Horst J (1989) A β-thalassemia gene caused by a 290-bp deletion. Analysis by direct sequencing of enzymatically amplified DNA. Blood 73:1695–1698
Thein SL, Wainscoat JS, Old JM, Wallace RB, Weatherall DJ (1985) The AvaII ψβ polymorphism is linked to the common Mediterraean β+-thalassemia mutation. Br J Haematol 61:747–752
Treisman R, Orkin SH, Maniatis T (1983) Specific transcription and RNA splicing defects in five cloned β-thalassemia genes. Nature 302:591–596
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Aulehla-Scholz, C., Basaran, S., Agaoglu, L. et al. Molecular basis of β-thalassemia in Turkey: detection of rare mutations by direct sequencing. Hum Genet 84, 195–197 (1990). https://doi.org/10.1007/BF00208941
Received:
Revised:
Issue Date:
DOI: https://doi.org/10.1007/BF00208941